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Claim Documentation Requirements

 

HMSA routinely requires submission of clinical records before payment of claims when the claim includes:

 

Anesthesia Service

(NOTE: Clinical information must document the rationale for the use of anesthesia on high-risk patients.)

Code Code Description Provider Documentation
62267 Percutaneous Aspiration within the Nucleus Pulposus A copy of the history and physical report is required.
00731 Anesthesia for upper gastrointestinal endoscopic procedures, endoscope introduced proximal to duodenum; not otherwise specified A copy of the history and physical report is required.
00732 Anesthesia for upper gastrointestinal endoscopic procedures, endoscope introduced proximal to duodenum; endoscopic retrograde cholangiopancreatography (ercp) A copy of the history and physical report is required.
00811 Anesthesia for lower intestinal endoscopic procedures, endoscope introduced distal to duodenum; not otherwise specified A copy of the history and physical report is required.
00812 Anesthesia for lower intestinal endoscopic procedures, endoscope introduced distal to duodenum; screening colonoscopy A copy of the history and physical report is required.
00813 Anesthesia for combined upper and lower gastrointestinal endoscopic procedures, endoscope introduced both proximal to and distal to the duodenum A copy of the history and physical report is required.
     
Catheter Placement by Anesthesia Providers - Claim Documentation Requirements
Code Code Description Provider Documentation
     
Radiation Management - Claim Documentation Requirements
Code Code Description Provider Documentation
     
Radiology Services - Claim Documentation Requirements
Code Code Description Provider Documentation
A9513 Lutetium lu 177, dotatate, therapeutic, 1 millicurie A copy of the clinical notes is required.
A9515 Choline C-11, diagnostic, per study dose up to 20 millicuries A copy of the Diagnostic/Imaging report is required.
A9587 Gallium GA-68, dotatate, diagnostic, 0.1 millicurie A copy of the Diagnostic/Imaging report is required.
A9588 Fluciclovine F-18, diagnostic, 1 millicurie A copy of the Diagnostic/Imaging report is required.
A9597 Positron emission tomography radiopharmaceutical, diagnostic, for tumor identification, not otherwise classified A copy of the Diagnostic/Imaging report is required.
A9598 Positron emission tomography radiopharmaceutical, diagnostic, for non-tumor identification, not otherwise classified A copy of the Diagnostic/Imaging report is required.
71047 Radiologic examination, chest; 3 views A copy of the clinical notes is required.
71048 Radiologic examination, chest; 4 or more views A copy of the clinical notes is required.
76978 Ultrasound, targeted dynamic microbubble sonographic contrast characterization (non-cardiac); initial lesion A copy of the clinical notes is required.
76979 Ultrasound, targeted dynamic microbubble sonographic contrast characterization (non-cardiac); each additional lesion with separate injection (list separately in addition to code for primary procedure) A copy of the clinical notes is required.

 

Assisted Listening Devices
Code Code Description Provider Documentation
V5267 Hearing aid or assistive listening device/supplies/accessories, not otherwise specified A copy of the clinical notes is required.
V5268 Assistive listening device, telephone amplifier, any type A copy of the clinical notes is required.
V5269 Assistive listening device, alerting, any type A copy of the clinical notes is required.
V5270 Assistive listening device, television amplifier, any type A copy of the clinical notes is required.
V5271 Assistive listening device, television caption decoder A copy of the clinical notes is required.
V5272 Assistive listening device, TDD A copy of the clinical notes is required.
V5273 Assistive listening device, for use with cochlear implant A copy of the clinical notes is required.
V5281 Assistive listening device, personal FM/DM system, monaural, (1 receiver, transmitter, microphone), any type A copy of the clinical notes is required.
V5282 Assistive listening device, personal FM/DM system, binaural, (2 receivers, transmitter, microphone), any type A copy of the clinical notes is required.
V5283 Assistive listening device, personal FM/DM neck, loop induction receiver A copy of the clinical notes is required.
V5284 Assistive listening device, personal FM/DM, ear level receiver A copy of the clinical notes is required.
V5285 Assistive listening device, personal FM/DM, direct audio input receiver A copy of the clinical notes is required.
V5286 Assistive listening device, personal blue tooth FM/DM receiver A copy of the clinical notes is required.
V5287 Assistive listening device, personal FM/DM receiver, not otherwise specified A copy of the clinical notes is required.
V5288 Assistive listening device, personal FM/DM transmitter assistive listening device A copy of the clinical notes is required.
V5289 Assistive listening device, personal FM/DM adapter/boot coupling device for receiver, any type A copy of the clinical notes is required.
V5290 Assistive listening device, transmitter microphone, any type A copy of the clinical notes is required.
*These documentation instructions are applicable only to HMSA members in small group and individual plans or Federal Plan 87.

 

Debridement
Code Code Description Provider Documentation
11043 Debridement , muscle and/or fascia  (includes epidermis, dermis and subcutaneous tissue if performed); first 20 sq cm or less A copy of the operative report is required.
11044 Debridement , bone (includes epidermis, dermis, subcutaneous tissue, muscle and/or fascia if performed); first 20 sq cm or less A copy of the operative report is required.
11045 Debridement , subcutaneous tissue (includes epidermis and dermis if performed); each additional 20 sq cm, or part thereof (list separately in addition to code for primary procedure) A copy of the operative report is required.
11046 Debridement , muscle and/or fascia (includes epidermis, dermis and subcutaneous tissue if performed); each additional 20 sq cm, or part thereof (list separately in addition to code for primary procedure) A copy of the operative report is required.
11047 Debridement , bone (includes epidermis, dermis, subcutaneous tissue, muscle and/or fascia, if performed); each additional 20 sq cm, or part thereof (list separately in addition to code for primary procedure) A copy of the operative report is required.

 

Delivery/Birthing
Code Code Description Provider Documentation
94011 Measurement of spirometric forced expiratory flows, in an infant or child through 2 years of age A copy of the clinical notes is required.
94012 Measurement of spirometric forced expiratory flows, before and after bronchodilator, in an infant or child through 2 years of age A copy of the clinical notes is required.
94013 Measurement of lung volumes (i.e., functional residual capacity (FRC), forced vital capacity (FVC), and expiratory reserve volume (ERV)) in an infant or child through 2 years of age A copy of the clinical notes is required.
99466 Pediatric Critical Care Patient Transport Provide transport note.
99467 Pediatric Critical Care Patient Transport Provide transport note.

 

Durable Medical Equipment
Code Code Description Provider Documentation
A4459 Anual pump-operated enema system, includes balloon, catheter and all accessories, reusable, any type A copy of the clinical notes is required.
A7020 Interface for cough stimulating device, includes all components, replacement only Service will be processed based on the determination of the initial equipment billed under E0482.
A9285 Inversion/eversion correction device A copy of the clinical notes is required.
E0467 Home ventilator, multi-function respiratory device, also performs any or all of the additional functions of oxygen concentration, drug nebulization, aspiration, and cough stimulation, includes all accessories, components and supplies for all functions A copy of the clinical notes is required.
L5961 Addition, endoskeletal system, polycentric hip joint, pneumatic or hydraulic control, rotation control, with or without flexion and/or extension control  A copy of the clinical notes is required.
L8693 Auditory osseointegrated device abutement, any length, replacement only  A copy of the clinical notes is required.
L8696 Antenna (external) for use with implantable diaphragmatic/phrenic nerve stimulation device, replacement, each A copy of the clinical notes is required.
Q0478 Power adapter for use with electric or electric/pneumatic ventricular assist device, vehicle type A copy of the clinical notes is required.
Q0479 Power module for use with electric or electric/pneumatic ventricular assist device, replacement only A copy of the clinical notes is required.
Durable Medical Equipment - Claim Documentation Requirements
Durable Medical Equipment Items Requiring CMN or DIF
Durable Medical Equipment, Prosthetics and Orthotics
Pathology and Lab - Claim Documentation Requirements
Services That Require Precertification

 

Evaluation and Management
Code Code Description Provider Documentation
99354 Prolonged physician services A copy of the clinical notes is required.

 

Medicine
Code Code Description Provider Documentation
95976 Electronic analysis of implanted neurostimulator pulse generator/transmitter (eg, contact group[s], interleaving, amplitude, pulse width, frequency [hz], on/off cycling, burst, magnet mode, dose lockout, patient selectable parameters, responsive neurostimulation, detection algorithms, closed loop parameters, and passive parameters) by physician or other qualified health care professional; with simple cranial nerve neurostimulator pulse generator/transmitter programming by physician or other qualified health care professional A copy of the clinical notes is required.
95977 Electronic analysis of implanted neurostimulator pulse generator/transmitter (eg, contact group[s], interleaving, amplitude, pulse width, frequency [hz], on/off cycling, burst, magnet mode, dose lockout, patient selectable parameters, responsive neurostimulation, detection algorithms, closed loop parameters, and passive parameters) by physician or other qualified health care professional; with complex cranial nerve neurostimulator pulse generator/transmitter programming by physician or other qualified health care professional A copy of the clinical notes is required.
95983 Electronic analysis of implanted neurostimulator pulse generator/transmitter (eg, contact group[s], interleaving, amplitude, pulse width, frequency [hz], on/off cycling, burst, magnet mode, dose lockout, patient selectable parameters, responsive neurostimulation, detection algorithms, closed loop parameters, and passive parameters) by physician or other qualified health care professional; with brain neurostimulator pulse generator/transmitter programming, first 15 minutes face-to-face time with physician or other qualified health care professional A copy of the clinical notes is required.
95984 Pulse width, frequency [hz], on/off cycling, burst, magnet mode, dose lockout, patient selectable parameters, responsive neurostimulation, detection algorithms, closed loop parameters, and passive parameters) by physician or other qualified health care professional; with brain neurostimulator pulse generator/transmitter programming, each additional 15 minutes face-to-face time with physician or other qualified health care professional (list separately in addition to code for primary procedure) A copy of the clinical notes is required.

 

Miscellaneous Services
Code Code Description Provider Documentation
J0775 Collagenase, clostridium histolyticum, 0.01 mg A copy of the clinical notes is required.
J0841 Injection, crotalidae immune f(ab')2 (equine), 120 mg A copy of the clinical notes is required.
Q4186 Epifix, per square centimeter History and Physical required.
20527 Injection, enzyme (e.g., collagenase), palmar fascial cord (i.e., Dupuytren's contracture) A copy of the clinical notes is required.
20979 Low intensity ultrasound stimulation to aid bone healing, noninvasive (nonoperative) A copy of the clinical notes is required.
26341 Manipulation, palmar fascial cord (i.e., Dupuytren's cord), post enzyme injection (e.g., collagenase), single cord A copy of the clinical notes is required.
31295 Nasal/sinus endoscopy, surgical; with dilation of maxillary sinus ostium (eg, balloon dilation), transnasal or via canine fossa Note: this code denies for patients older than 18 years or younger A copy of the clinical notes or H&P.
31296 Nasal/sinus endoscopy, surgical; with dilation of frontal sinus ostium (eg, balloon dilation) Note: this code denies for patients older than 18 years or younger A copy of the clinical notes or H&P.
31297 Nasal/sinus endoscopy, surgical; with dilation of sphenoid sinus ostium (eg, balloon dilation) Note: this code denies for patients older than 18 years or younger A copy of the clinical notes or H&P.
33289 Transcatheter implantation of wireless pulmonary artery pressure sensor for long-term hemodynamic monitoring, including deployment and calibration of the sensor, right heart catheterization, selective pulmonary catheterization, radiological supervision and interpretation, and pulmonary artery angiography, when performed A copy of the clinical notes is required.
42280 Maxillary impression for palatal prosthesis A copy of the clinical notes is required.
43273 Cholangioscopy-Pancreatoscopy A copy of the operative report is required.
49327 Laparoscopy, surgical; with placement of interstitial device(s) for radiation therapy guidance (eg., fiducial markers, dosimeter), intra-abdominal, intrapelvic, and/or retroperitoneum, including imaging guidance, if performed, single or multiple (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
49412 Placement of interstitial device(s) for radiation therapy guidance (eg., fiducial markers, dosimeter), open intra-abdominal, intrapelvic, and/or retroperitoneum, including image guidance, if performed, single or multiple (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
65778 Placement of amniotic membrane on the ocular surface; without sutures) describes this procedure A copy of the clinical notes is required.
66179 Aqueous shunt eye w/o graft A copy of the clinical notes is required.
66183 Insertion of an aqueous drainage device without an extraocular reservoir into the anterior segment via an external approach A copy of the clinical notes is required.
66184 Revision of aqueous shunt A copy of the clinical notes is required.
77293 Respiratory motion management simulation A copy of the clinical notes is required.
81163 Brca1 (brca1, dna repair associated), brca2 (brca2, dna repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis A copy of the clinical notes is required.
81164 Brca1 (brca1, dna repair associated), brca2 (brca2, dna repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) A copy of the clinical notes is required.
81165 Brca1 (brca1, dna repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis A copy of the clinical notes is required.
81166 Brca1 (brca1, dna repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) A copy of the clinical notes is required.
81167 Brca2 (brca2, dna repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) A copy of the clinical notes is required.
81187 Cnbp (cchc-type zinc finger nucleic acid binding protein) (eg, myotonic dystrophy type 2) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81188 Cstb (cystatin b) (eg, unverricht-lundborg disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81189 Cstb (cystatin b) (eg, unverricht-lundborg disease) gene analysis; full gene sequence A copy of the clinical notes is required.
81190 Cstb (cystatin b) (eg, unverricht-lundborg disease) gene analysis; known familial variant(s) A copy of the clinical notes is required.
81233 Btk (bruton's tyrosine kinase) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, c481s, c481r, c481f) A copy of the clinical notes is required.
81234 Dmpk (dm1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; evaluation to detect abnormal (expanded) alleles A copy of the clinical notes is required.
81239 Dmpk (dm1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; characterization of alleles (eg, expanded size) A copy of the clinical notes is required.
81283 Ifnl3 (interferon, lambda 3) (eg, drug response), gene analysis, rs12979860 variant A copy of the clinical notes is required.
81328 Slco1b1 (solute carrier organic anion transporter family, member 1b1) (eg, adverse drug reaction), gene analysis, common variant(s) (eg, *5) A copy of the clinical notes is required.
81334 Runx1 (runt related transcription factor 1) (eg, acute myeloid leukemia, familial platelet disorder with associated myeloid malignancy), gene analysis, targeted sequence analysis (eg, exons 3-8) A copy of the clinical notes is required.
81335 Tpmt (thiopurine s-methyltransferase) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3) A copy of the clinical notes is required.
81336 Smn1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; full gene sequence A copy of the clinical notes is required.
81337 Smn1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; known familial sequence variant(s) A copy of the clinical notes is required.
81346 Tyms (thymidylate synthetase) (eg, 5-fluorouracil/5-fu drug metabolism), gene analysis, common variant(s) (eg, tandem repeat variant) A copy of the clinical notes is required.
81448 Hereditary peripheral neuropathies (eg, charcot-marie-tooth, spastic paraplegia), genomic sequence analysis panel, must include sequencing of at least 5 peripheral neuropathy-related genes (eg, bscl2, gjb1, mfn2, mpz, reep1, spast, spg11, sptlc1) A copy of the clinical notes is required.
81596 Infectious disease, chronic hepatitis c virus (hcv) infection, six biochemical assays (alt, a2-macroglobulin, apolipoprotein a-1, total bilirubin, ggt, and haptoglobin) utilizing serum, prognostic algorithm reported as scores for fibrosis and necroinflammatory activity in liver A copy of the clinical notes is required.
82642 Dihydrotestosterone (dht) A copy of the clinical notes is required.
82664 Electrophorectic technique, not elsewhere specified A copy of the clinical notes is required.
87661 Amplified probe DNA infectious agent detection for Trichomonas vaginalis A copy of the clinical notes is required.
87634 Infectious agent detection by nucleic acid (dna or rna); respiratory syncytial virus, amplified probe technique A copy of the clinical notes is required.
87662 Infectious agent detection by nucleic acid (dna or rna); zika virus, amplified probe technique A copy of the clinical notes is required.
90865 Narcosynthesis for psychiatric diagnostic and therapeutic purposes [e.g., sodium amobarbital (Amytal) interview] A copy of the clinical notes is required.
92274    Electroretinography (ERG), with interpretation and report; multifocal (mfERG)     A copy of the diagnostic/imaging report is required.
93264 Remote monitoring of a wireless pulmonary artery pressure sensor for up to 30 days, including at least weekly downloads of pulmonary artery pressure recordings, interpretation(s), trend analysis, and report(s) by a physician or other qualified health care professional A copy of the clinical notes is required.
93895 Quantitative carotid intima media thickness and carotid atheroma evaluation, bilateral A copy of the clinical notes is required.
94660 CPAP initiation and management A copy of the sleep study report is required.
94662 CPAP initiation and management A copy of the sleep study report is required.
95836 Electrocorticogram from an implanted brain neurostimulator pulse generator/transmitter, including recording, with interpretation and written report, up to 30 days A copy of the sleep study report is required.
95965 Magnetoencephalography (MEG), recording and analysis; for spontaneous brain magnetic activity (e.g., epileptic cerebral cortex localization). (List separately in addition to code for primary procedure.)
95966 Magnetoencephalography (MEG), recording and analysis; for evoked magnetic fields, single modality (e.g., sensory, motor, language, or visual cortex localization). (List separately in addition to code for primary procedure.)
95967 Magnetoencephalography (MEG), recording and analysis; for evoked magnetic fields, each additional modality (e.g., sensory, motor,  language, or visual cortex localization). (List separately in addition to code for primary procedure.)
96020 Neurofunctional testing A copy of the clinical notes is required.
96125 Standardized cognitive performance testing (e.g., Ross Information Processing Assessment) per hour of a qualified health care professional's time, both face-to-face time administering tests to the patient and time interpreting these test results and preparing the report A copy of the clinical notes is required.
99184 Initiation of selective head or total body hypothermia in the critically ill neonate, includes appropriate patient selection by review of clinical, imaging and laboratory data, confirmation of esophageal temperature probe location, evaluation of amplitude A copy of the clinical notes is required.
99453 Remote monitoring of physiologic parameter(s) (eg, weight, blood pressure, pulse oximetry, respiratory flow rate), initial; set-up and patient education on use of equipment A copy of the clinical notes is required.
99454 Remote monitoring of physiologic parameter(s) (eg, weight, blood pressure, pulse oximetry, respiratory flow rate), initial; device(s) supply with daily recording(s) or programmed alert(s) transmission, each 30 days A copy of the clinical notes is required.
99457 Remote physiologic monitoring treatment management services, 20 minutes or more of clinical staff/physician/other qualified health care professional time in a calendar month requiring interactive communication with the patient/caregiver during the month A copy of the clinical notes is required.
99481 Total body systemic hypothermia A copy of the clinical notes is required.
99482 Selective head hypothermia A copy of the clinical notes is required.
99485 Supervision by a control physician of interfacility transport care of the critically ill or critically injured pediatric patient, 24 months of age or younger, includes two-way communication with transport team before transport, at the referring facility and during the transport, including data interpretation and report; first 30 minutes A copy of the clinical notes is required.
99486 Supervision by a control physician of interfacility transport care of the critically ill or critically injured pediatric patient, 24 months of age or younger, includes two-way communication with transport team before transport, at the referring facility and during the transport, including data interpretation and report; each additional 30 minutes (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
0058T Cryopreservation; reproductive tissue, ovarian A copy of the clinical notes is required.
0059T Cryopreservation; Oocyte(s) A copy of the clinical notes is required.
A0998 Ambulance response and treatment provided without transport a copy of the Description of Service document is required.
E0766 Electrical stimulation device used for cancer treatment, includes all accessories, any type A copy of the clinical notes is required.
J0600 Chelation therapy A copy of the clinical notes is required.
J3520 Chelation therapy A copy of the clinical notes is required.
J7309 Methyl aminolevulinate (MAL) for topical administration, 16.8%, 1 gram A copy of the clinical notes is required.
J7335 Capsaicin 8% patch, per square centimeters A copy of the clinical notes is required.
J7336 Capsaicin 8% patch, per square centimeter A copy of the clinical notes is required.
Q4107 Graftjacket, per sq cm (effective 8/1/11) A copy of the clinical notes is required.
Q4113 Graftjacket express, injectable, 1cc (effective 8/1/11) A copy of the clinical notes is required.
Q4115 Skin Substitute A copy of the clinical notes is required.
S2152 Solid organ(s), complete or segmental, single organ or combination of organs; deceased or living donor (s), procurement, transplantation, and related complications; including: drugs; supplies; hospitalization with outpatient follow-up; medical/surgical, diagnostic, emergency, and rehabilitative services, and the number of days of pre and posttransplant care in the global definition (effective 09/01/2014) A copy of the clinical notes is required.
S2404 Repair, myelomeningocele in the fetus, procedure performed in utero A copy of the clinical notes is required.
S5501 Catheter care/maintenance, home infusion therapy A copy of the Description of Service document is required.
S9055 Procuren A copy of the clinical notes is required.
V2790 Amniotic membrane for surgical reconstruction per procedure A copy of the clinical notes is required.
Baldness. For services relating to diagnosing the condition, a copy of the clinical note describing the findings that led to the diagnosis along with any supporting documentation must accompany the claim. See Hair Loss - Alopecia for additional information on coverage and limitations.
Donor services. See Organ Donor Services.
Polysomnography - Sleep Studies Polysomnography/sleep study should be performed with the intent to complete the study with titration of positive airway pressure (i.e., CPT code 95811). One polysomnogram/sleep study will be covered every five years unless there is a significant change in patient status. A repeat polysomnogram before five years will be covered only when criteria outlined in the policy are met.
Temporomandibular joint (TMJ) syndrome. Services rendered to determine the diagnosis are a benefit of HMSA's HMO plans and Federal Plan 87. A copy of the clinical note describing the findings that led to the diagnosis along with any supporting radiology reports must accompany the claim.
Unlisted and Miscellaneous Codes - Claim Documentation Requirements

 

Orthopedic Services
Code Code Description Provider Documentation
20696 Computer-assisted external fixation A copy of the operative report is required.
20697 Computer-assisted external fixation A copy of the operative report is required.

 

Pathology and Lab
Code Code Description Provider Documentation
0002M Liver disease, ten biochemical assays (alt, a2-macroglobulin, apolipoprotein a-1, total bilirubin, ggt, haptoglobin, ast, glucose, total cholesterol and triglycerides) utilizing serum, prognostic algorithm reported as quantitative scores for fibrosis, steatosis and alcoholic steatohepatitis (ash) A copy of the clinical notes is required.
0003M Liver disease, ten biochemical assays (alt, a2-macroglobulin, apolipoprotein a-1, total bilirubin, ggt, haptoglobin, ast, glucose, total cholesterol and triglycerides) utilizing serum, prognostic algorithm reported as quantitative scores for fibrosis, steatosis and nonalcoholic steatohepatitis (nash) A copy of the clinical notes is required.
0004M Scoliosis, dna analysis of 53 single nucleotide polymorphisms (snps), using saliva, prognostic algorithm reported as a risk score A copy of the clinical notes is required.
0009M Fetal aneuploidy (trisomy 21 and 18) DNA sequence analysis of selected regions using maternal plasma, algorithm reported as a risk score for each trisomy A copy of the clinical notes is required.
0027U Jak2 (janus kinase 2) (eg, myeloproliferative disorder) gene analysis, targeted sequence analysis exons 12-15 A copy of the clinical notes is required.
0028U Cyp2d6 (cytochrome p450, family 2, subfamily d, polypeptide 6) (eg, drug metabolism) gene analysis, copy number variants, common variants with reflex to targeted sequence analysis A copy of the clinical notes is required.
0031U Cyp1a2 (cytochrome p450 family 1, subfamily a, member 2)(eg, drug metabolism) gene analysis, common variants (ie, *1f, *1k, *6, *7) A copy of the clinical notes is required.
0039U Deoxyribonucleic acid (dna) antibody, double stranded, high avidity A copy of the clinical notes is required. (Only for MCR)
0040U Bcr/abl1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis, major breakpoint, quantitative A copy of the clinical notes is required.
0066U Placental alpha-micro globulin-1 (pamg-1), immunoassay with direct optical observation, cervico-vaginal fluid, each specimen A copy of the clinical notes is required.
0069U Oncology (colorectal), microrna, rt-pcr expression profiling of mir-31-3p, formalin-fixed paraffin-embedded tissue, algorithm reported as an expression score A copy of the clinical notes is required.
80374 Stereoisomer (enantiomer) analysis, single drug class A copy of the clinical notes is required.
81105 Human platelet antigen 1 genotyping (hpa-1), itgb3 (integrin, beta 3 [platelet glycoprotein iiia], antigen cd61 [gpiiia]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hpa-1a/b (l33p) A copy of the clinical notes is required.
81106 Human platelet antigen 2 genotyping (hpa-2), gp1ba (glycoprotein ib [platelet], alpha polypeptide [gpiba]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hpa-2a/b (t145m)  A copy of the clinical notes is required.
81107 Human platelet antigen 3 genotyping (hpa-3), itga2b (integrin, alpha 2b [platelet glycoprotein iib of iib/iiia complex], antigen cd41 [gpiib]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hpa  A copy of the clinical notes is required.
81108 Human platelet antigen 4 genotyping (hpa-4), itgb3 (integrin, beta 3 [platelet glycoprotein iiia], antigen cd61 [gpiiia]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hpa-4a/b (r143q)  A copy of the clinical notes is required.
81109 Human platelet antigen 5 genotyping (hpa-5), itga2 (integrin, alpha 2 [cd49b, alpha 2 subunit of vla-2 receptor] [gpia]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant (eg, hpa-5a/b (k505e))  A copy of the clinical notes is required.
81110 Human platelet antigen 6 genotyping (hpa-6w), itgb3 (integrin, beta 3 [platelet glycoprotein iiia, antigen cd61] [gpiiia]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hpa-6a/b (r489q)  A copy of the clinical notes is required.
81111 Human platelet antigen 9 genotyping (hpa-9w), itga2b (integrin, alpha 2b [platelet glycoprotein iib of iib/iiia complex, antigen cd41] [gpiib]) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hp  A copy of the clinical notes is required.
81112 Human platelet antigen 15 genotyping (hpa-15), cd109 (cd109 molecule) (eg, neonatal alloimmune thrombocytopenia [nait], post-transfusion purpura), gene analysis, common variant, hpa-15a/b (s682y)  A copy of the clinical notes is required.
81120 Idh1 (isocitrate dehydrogenase 1 [nadp+], soluble) (eg, glioma), common variants (eg, r132h, r132c)  A copy of the clinical notes is required.
81121 Idh2 (isocitrate dehydrogenase 2 [nadp+], mitochondrial) (eg, glioma), common variants (eg, r140w, r172m)  A copy of the clinical notes is required.
81171 Aff2 (af4/fmr2 family, member 2 [fmr2]) (eg, fragile x mental retardation 2 [fraxe]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles  A copy of the clinical notes is required.
81172 Aff2 (af4/fmr2 family, member 2 [fmr2]) (eg, fragile x mental retardation 2 [fraxe]) gene analysis; characterization of alleles (eg, expanded size and methylation status)  A copy of the clinical notes is required.
81173 Ar (androgen receptor) (eg, spinal and bulbar muscular atrophy, kennedy disease, x chromosome inactivation) gene analysis; full gene sequence  A copy of the clinical notes is required.
81174 Ar (androgen receptor) (eg, spinal and bulbar muscular atrophy, kennedy disease, x chromosome inactivation) gene analysis; known familial variant  A copy of the clinical notes is required.
81175 Asxl1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence  A copy of the clinical notes is required.
81176 Asxl1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; targeted sequence analysis (eg, exon 12)  A copy of the clinical notes is required.
81177 Atn1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81178

Genetic Testing : ATXN Gene Series  (ex. Spinocerebellar ataxia) ATXN7 mentioned once in 2.04.63  

Use of Common Genetic Variants (Single-Nucleotide Variants) to Predict Risk of Non-familial Breast Cancer

A copy of the clinical notes is required.
81180 Atxn3 (ataxin 3) (eg, spinocerebellar ataxia, machado-joseph disease) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81181 Atxn7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81182 Atxn8os (atxn8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81183 Atxn10 (ataxin 10) (eg, spinocerebellar ataxia) gene analysis,evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81184 Cacna1a (calcium voltage-gated channel subunit alpha1 a) (eg, spinocerebellar ataxia) gene analysis; evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81185 Cacna1a (calcium voltage-gated channel subunit alpha1 a) (eg, spinocerebellar ataxia) gene analysis; full gene sequence A copy of the clinical notes is required.
81186 Cacna1a (calcium voltage-gated channel subunit alpha1 a) (eg, spinocerebellar ataxia) gene analysis; known familial variant A copy of the clinical notes is required.
81204 Ar (androgen receptor) (eg, spinal and bulbar muscular atrophy, kennedy disease, x chromosome inactivation) gene analysis; characterization of alleles (eg, expanded size or methylation status) A copy of the clinical notes is required.
81209 Blm (bloom syndrome, recq helicase-like) (eg, bloom syndrome) gene analysis, 2281del6ins7 variant A copy of the clinical notes is required.
81230 Cyp3a4 (cytochrome p450 family 3 subfamily a member 4) (eg, drug metabolism), gene analysis, common variant(s) (eg, *2, *22) A copy of the clinical notes is required.
81231 Cyp3a5 (cytochrome p450 family 3 subfamily a member 5) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *7) A copy of the clinical notes is required.
81232 Dpyd (dihydropyrimidine dehydrogenase) (eg, 5-fluorouracil/5-fu and capecitabine drug metabolism), gene analysis, common variant(s) (eg, *2a, *4, *5, *6) A copy of the clinical notes is required.
81236 Ezh2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, myelodysplastic syndrome, myeloproliferative neoplasms) gene analysis, full gene sequence A copy of the clinical notes is required.
81237 Ezh2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, diffuse large b-cell lymphoma) gene analysis, common variant(s) (eg, codon 646) A copy of the clinical notes is required.
81238 F9 (coagulation factor ix) (eg, hemophilia b), full gene sequence A copy of the clinical notes is required.
81246 Flt3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; tyrosine kinase domain (tkd) variants (eg, d835, i836) A copy of the clinical notes is required.
81247 G6pd (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; common variant(s) (eg, a, a-) A copy of the clinical notes is required.
81248 G6pd (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; known familial variant(s) A copy of the clinical notes is required.
81249 G6pd (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; full gene sequence A copy of the clinical notes is required.
81252 GJB2 (GAP JUNCTION PROTEIN, BETA 2, 26KDA; CONNEXIN 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence A copy of the clinical notes is required.
81253 GJB2 (gap junction protein, beta 2, 26kda; connexin 26) (eg, nonsyndromic hearing loss) gene analysis; known familial variants A copy of the clinical notes is required.
81254 GJB6 (gap junction protein, beta 6, 30KDA, connexin 30) (eg, nonsyndromic hearing loss) gene analysis, common variants (eg, 309KB [DEL(GJB6-D13S1830)] and 232KB [DELGJB6-D13S1854)]) A copy of the clinical notes is required.
81258 Hba1/hba2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, hb bart hydrops fetalis syndrome, hbh disease), gene analysis; known familial variant A copy of the clinical notes is required.
81259 Hba1/hba2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, hb bart hydrops fetalis syndrome, hbh disease), gene analysis; full gene sequence A copy of the clinical notes is required.
81269 Hba1/hba2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, hb bart hydrops fetalis syndrome, hbh disease), gene analysis; duplication/deletion variants A copy of the clinical notes is required.
81284  Fxn (frataxin) (eg, friedreich ataxia) gene analysis; evaluation to detect abnormal (expanded) alleles A copy of the clinical notes is required.
81285  Fxn (frataxin) (eg, friedreich ataxia) gene analysis; characterization of alleles (eg, expanded size) A copy of the clinical notes is required.
81286  Fxn (frataxin) (eg, friedreich ataxia) gene analysis; full gene sequence A copy of the clinical notes is required.
81288 Mlh1 (mutl homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, lynch syndrome) gene analysis; promoter methylation analysis A copy of the clinical notes is required.
81289 Fxn (frataxin) (eg, friedreich ataxia) gene analysis; known familial variant(s) A copy of the clinical notes is required.
81305 Myd88 (myeloid differentiation primary response 88) (eg, waldenstrom's macroglobulinemia, lymphoplasmacytic leukemia) gene analysis, p.leu265pro (l265p) variant A copy of the clinical notes is required.
81306 Nudt15 (nudix hydrolase 15) (eg, drug metabolism) gene analysis, common variant(s) (eg, *2, *3, *4, *5, *6) A copy of the clinical notes is required.
81312 Pabpn1 (poly[a] binding protein nuclear 1) (eg, oculopharyngeal muscular dystrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81313 PCA3/KLK3 ANTIGEN A copy of the clinical notes is required.
81321 Pten (phosphatase and tensin homolog) (eg, cowden syndrome, pten hamartoma tumor syndrome) gene analysis; full sequence analysis A copy of the clinical notes is required.
81322 Pten (phosphatase and tensin homolog) (eg, cowden syndrome, pten hamartoma tumor syndrome) gene analysis; known familial variant A copy of the clinical notes is required.
81323 Pten (phosphatase and tensin homolog) (eg, cowden syndrome, pten hamartoma tumor syndrome) gene analysis; duplication/deletion variant A copy of the clinical notes is required.
81343 Ppp2r2b (protein phosphatase 2 regulatory subunit bbeta) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81344 Tbp (tata box binding protein) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles A copy of the clinical notes is required.
81345 Tert (telomerase reverse transcriptase) (eg, thyroid carcinoma, glioblastoma multiforme) gene analysis, targeted sequence analysis (eg, promoter region) A copy of the clinical notes is required.
81361 Hbb (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, hbs, hbc, hbe) A copy of the clinical notes is required.
81362 Hbb (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); known familial variant(s) A copy of the clinical notes is required.
81363 Hbb (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s) A copy of the clinical notes is required.
81364 Hbb (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence A copy of the clinical notes is required.
81400

Molecular pathology procedure, level 1 (eg, identification of single germline variant [eg, snp] by techniques such as restriction enzyme digestion or melt curve analysis) acadm (acyl-coa dehydrogenase, c-4 to c-12 straight chain, mcad) (eg, medium chain acyl dehydrogenase deficiency), k304e variant ace (angiotensin converting enzyme) (eg, hereditary blood pressure regulation), insertion/deletion variant agtr1 (angiotensin ii receptor, type 1) (eg, essential hypertension), 1166a>c variant bckdha (branched chain keto acid dehydrogenase e1, alpha polypeptide) (eg, maple syrup urine disease, type 1a), y438n variant ccr5 (chemokine c-c motif receptor 5) (eg, hiv resistance), 32-bp deletion mutation/794 825del32 deletion clrn1 (clarin 1) (eg, usher syndrome, type 3), n48k variant f2 (coagulation factor 2) (eg, hereditary hypercoagulability), 1199g>a variant f5 (coagulation factor v) (eg, hereditary hypercoagulability), hr2 variant f7 (coagulation factor vii [serum prothrombin conversion accelerator]) (eg, hereditary hypercoagulability), r353q variant f13b (coagulation factor xiii, b polypeptide) (eg, hereditary hypercoagulability), v34l variant fgb (fibrinogen beta chain) (eg, hereditary ischemic heart disease), -455g>a variant fgfr1 (fibroblast growth factor receptor 1) (eg, pfeiffer syndrome type 1, craniosynostosis), p252r variant fgfr3 (fibroblast growth factor receptor 3) (eg, muenke syndrome), p250r variant fktn (fukutin) (eg, fukuyama congenital muscular dystrophy), retrotransposon insertion variant gne (glucosamine [udp-n-acetyl]-2-epimerase/n-acetylmannosamine kinase) (eg, inclusion body myopathy 2 [ibm2], nonaka myopathy), m712t variant ivd (isovaleryl-coa dehydrogenase) (eg, isovaleric acidemia), a282v variant lct (lactase-phlorizin hydrolase) (eg, lactose intolerance), 13910 c>t variant neb (nebulin) (eg, nemaline myopathy 2), exon 55 deletion variant pcdh15 (protocadherin-related 15) (eg, usher syndrome type 1f), r245x variant serpine1 (serpine peptidase inhibitor clade e, member 1, plasminogen activator inhibitor -1, pai-1) (eg, thrombophilia), 4g variant shoc2 (soc-2 suppressor of clear homolog) (eg, noonan-like syndrome with loose anagen hair), s2g variant smn1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy), exon 7 deletion sry (sex determining region y) (eg, 46,xx testicular disorder of sex development, gonadal dysgenesis), gene analysis tor1a (torsin family 1, member a [torsin a]) (eg, early-onset primary dystonia [dyt1]), 907_909delgag (904_906delgag) variant

A copy of the clinical notes and invoice is required.
81401 Molecular pathology procedure, level 2 (eg, 2-10 snps, 1 methylated variant, or 1 somatic variant [typically using nonsequencing target variant analysis], or detection of a dynamic mutation disorder/triplet repeat) abcc8 (atp-binding cassette, sub-family c [cftr/mrp], member 8) (eg, familial hyperinsulinism), common variants (eg, c.3898-9g>a [c.3992-9g>a], f1388del) abl1 (abl proto-oncogene 1, non-receptor tyrosine kinase) (eg, acquired imatinib resistance), t315i variant acadm (acyl-coa dehydrogenase, c-4 to c-12 straight chain, mcad) (eg, medium chain acyl dehydrogenase deficiency), commons variants (eg, k304e, y42h) adrb2 (adrenergic beta-2 receptor surface) (eg, drug metabolism), common variants (eg, g16r, q27e) aff2 (af4/fmr2 family, member 2 [fmr2]) (eg, fragile x mental retardation 2 [fraxe]), evaluation to detect abnormal (eg, expanded) alleles apob (apolipoprotein b) (eg, familial hypercholesterolemia type b), common variants (eg, r3500q, r3500w) apoe (apolipoprotein e) (eg, hyperlipoproteinemia type iii, cardiovascular disease, alzheimer disease), common variants (eg, *2, *3, *4) ar (androgen receptor) (eg, spinal and bulbar muscular atrophy, kennedy disease, x chromosome inactivation), characterization of alleles (eg, expanded size or methylation status) atn1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy), evaluation to detect abnormal (eg, expanded) alleles atxn1 (ataxin 1) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles atxn2 (ataxin 2) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles atxn3 (ataxin 3) (eg, spinocerebellar ataxia, machado-joseph disease), evaluation to detect abnormal (eg, expanded) alleles atxn7 (ataxin 7) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles atxn8os (atxn8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles atxn10 (ataxin 10) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles cacna1a (calcium channel, voltage-dependent, p/q type, alpha 1a subunit) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles cbfb/myh11 (inv(16)) (eg, acute myeloid leukemia), qualitative, and quantitative, if performed cbs (cystathionine-beta-synthase) (eg, homocystinuria, cystathionine beta-synthase deficiency), common variants (eg, i278t, g307s) ccnd1/igh (bcl1/igh, t(11;14)) (eg, mantle cell lymphoma) translocation analysis, major breakpoint, qualitative, and quantitative, if performed cfh/arms2 (complement factor h/age-related maculopathy susceptibility 2) (eg, macular degeneration), common variants (eg, y402h [cfh], a69s [arms2]) cnbp (cchc-type zinc finger, nucleic acid binding protein) (eg, myotonic dystrophy type 2), evaluation to detect abnormal (eg, expanded) alleles cstb (cystatin b [stefin b]) (eg, unverricht-lundborg disease), evaluation to detect abnormal (eg, expanded) alleles dek/nup214 (t(6;9)) (eg, acute myeloid leukemia), translocation analysis, qualitative, and quantitative, if performed dmpk (dystrophia myotonica-protein kinase) (eg, myotonic dystrophy, type 1), evaluation to detect abnormal (eg, expanded) alleles e2a/pbx1 (t(1;19)) (eg, acute lymphocytic leukemia), translocation analysis, qualitative, and quantitative, if performed eml4/alk (inv(2)) (eg, non-small cell lung cancer), translocation or inversion analysis etv6/ntrk3 (t(12;15)) (eg, congenital/infantile fibrosarcoma), translocation analysis, qualitative, and quantitative, if performed etv6/runx1 (t(12;21)) (eg, acute lymphocytic leukemia), translocation analysis, qualitative, and quantitative, if performed ewsr1/atf1 (t(12;22)) (eg, clear cell sarcoma), translocation analysis, qualitative, and quantitative, if performed ewsr1/erg (t(21;22)) (eg, ewing sarcoma/peripheral neuroectodermal tumor), translocation analysis, qualitative, and quantitative, if performed ewsr1/fli1 (t(11;22)) (eg, ewing sarcoma/peripheral neuroectodermal tumor), translocation analysis, qualitative, and quantitative, if performed ewsr1/wt1 (t(11;22)) (eg, desmoplastic small round cell tumor), translocation analysis, qualitative, and quantitative, if performed f11 (coagulation factor xi) (eg, coagulation disorder), common variants (eg, e117x [type ii], f283l [type iii], ivs14del14, and ivs14+1g>a [type i]) fgfr3 (fibroblast growth factor receptor 3) (eg, achondroplasia, hypochondroplasia), common variants (eg, 1138g>a, 1138g>c, 1620c>a, 1620c>g) fip1l1/pdgfra (del[4q12]) (eg, imatinib-sensitive chronic eosinophilic leukemia), qualitative, and quantitative, if performed flg (filaggrin) (eg, ichthyosis vulgaris), common variants (eg, r501x, 2282del4, r2447x, s3247x, 3702delg) foxo1/pax3 (t(2;13)) (eg, alveolar rhabdomyosarcoma), translocation analysis, qualitative, and quantitative, if performed foxo1/pax7 (t(1;13)) (eg, alveolar rhabdomyosarcoma), translocation analysis, qualitative, and quantitative, if performed fus/ddit3 (t(12;16)) (eg, myxoid liposarcoma), translocation analysis, qualitative, and quantitative, if performed fxn (frataxin) (eg, friedreich ataxia), evaluation to detect abnormal (expanded) alleles galc (galactosylceramidase) (eg, krabbe disease), common variants (eg, c.857g>a, 30-kb deletion) galt (galactose-1-phosphate uridylyltransferase) (eg, galactosemia), common variants (eg, q188r, s135l, k285n, t138m, l195p, y209c, ivs2-2a>g, p171s, del5kb, n314d, l218l/n314d) h19 (imprinted maternally expressed transcript [non-protein coding]) (eg, beckwith-wiedemann syndrome), methylation analysis htt (huntingtin) (eg, huntington disease), evaluation to detect abnormal (eg, expanded) alleles igh@/bcl2 (t(14;18)) (eg, follicular lymphoma), translocation analysis; single breakpoint (eg, major breakpoint region [mbr] or minor cluster region [mcr]), qualitative or quantitative (when both mbr and mcr breakpoints are performed, use 81402) kcnq1ot1 (kcnq1 overlapping transcript 1 [non-protein coding]) (eg, beckwith-wiedemann syndrome), methylation analysis linc00518 (long intergenic non-protein coding rna 518) (eg, melanoma), expression analysis lrrk2 (leucine-rich repeat kinase 2) (eg, parkinson disease), common variants (eg, r1441g, g2019s, i2020t) med12 (mediator complex subunit 12) (eg, fg syndrome type 1, lujan syndrome), common variants (eg, r961w, n1007s) meg3/dlk1 (maternally expressed 3 [non-protein coding]/delta-like 1 homolog [drosophila]) (eg, intrauterine growth retardation), methylation analysis mll/aff1 (t(4;11)) (eg, acute lymphoblastic leukemia), translocation analysis, qualitative, and quantitative, if performed mll/mllt3 (t(9;11)) (eg, acute myeloid leukemia), translocation analysis, qualitative, and quantitative, if performed mt-atp6 (mitochondrially encoded atp synthase 6) (eg, neuropathy with ataxia and retinitis pigmentosa [narp], leigh syndrome), common variants (eg, m.8993t>g, m.8993t>c) mt-nd4, mt-nd6 (mitochondrially encoded nadh dehydrogenase 4, mitochondrially encoded nadh dehydrogenase 6) (eg, leber hereditary optic neuropathy [lhon]), common variants (eg, m.11778g>a, m.3460g>a, m.14484t>c) mt-nd5 (mitochondrially encoded trna leucine 1 [uua/g], mitochondrially encoded nadh dehydrogenase 5) (eg, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes [melas]), common variants (eg, m.3243a>g, m.3271t>c, m.3252a>g, m.13513g>a) mt-rnr1 (mitochondrially encoded 12s rna) (eg, nonsyndromic hearing loss), common variants (eg, m.1555a>g, m.1494c>t) mt-tk (mitochondrially encoded trna lysine) (eg, myoclonic epilepsy with ragged-red fibers [merrf]), common variants (eg, m.8344a>g, m.8356t>c) mt-tl1 (mitochondrially encoded trna leucine 1 [uua/g]) (eg, diabetes and hearing loss), common variants (eg, m.3243a>g, m.14709 t>c) mt-tl1 mt-ts1, mt-rnr1 (mitochondrially encoded trna serine 1 [ucn], mitochondrially encoded 12s rna) (eg, nonsyndromic sensorineural deafness [including aminoglycoside-induced nonsyndromic deafness]), common variants (eg, m.7445a>g, m.1555a>g) mutyh (muty homolog [e. Coli]) (eg, myh-associated polyposis), common variants (eg, y165c, g382d) nod2 (nucleotide-binding oligomerization domain containing 2) (eg, crohn's disease, blau syndrome), common variants (eg, snp 8, snp 12, snp 13) npm1/alk (t(2;5)) (eg, anaplastic large cell lymphoma), translocation analysis pabpn1 (poly[a] binding protein, nuclear 1) (eg, oculopharyngeal muscular dystrophy), evaluation to detect abnormal (eg, expanded) alleles pax8/pparg (t(2;3) (q13;p25)) (eg, follicular thyroid carcinoma), translocation analysis ppp2r2b (protein phosphatase 2, regulatory subunit b, beta) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles prss1 (protease, serine, 1 [trypsin 1]) (eg, hereditary pancreatitis), common variants (eg, n29i, a16v, r122h) prame (preferentially expressed antigen in melanoma) (eg, melanoma), expression analysis pygm (phosphorylase, glycogen, muscle) (eg, glycogen storage disease type v, mcardle disease), common variants (eg, r50x, g205s) runx1/runx1t1 (t(8;21)) (eg, acute myeloid leukemia) translocation analysis, qualitative, and quantitative, if performed smn1/smn2 (survival of motor neuron 1, telomeric/survival of motor neuron 2, centromeric) (eg, spinal muscular atrophy), dosage analysis (eg, carrier testing) (for duplication/deletion analysis of smn1/smn2, use 81401) ss18/ssx1 (t(x;18)) (eg, synovial sarcoma), translocation analysis, qualitative, and quantitative, if performed ss18/ssx2 (t(x;18)) (eg, synovial sarcoma), translocation analysis, qualitative, and quantitative, if performed tbp (tata box binding protein) (eg, spinocerebellar ataxia), evaluation to detect abnormal (eg, expanded) alleles vwf (von willebrand factor) (eg, von willebrand disease type 2n), common variants (eg, t791m, r816w, r854q) A copy of the clinical notes and invoice is required.
81402 Molecular pathology procedure, level 3 (eg, >10 snps, 2-10 methylated variants, or 2-10 somatic variants [typically using non-sequencing target variant analysis], immunoglobulin and t-cell receptor gene rearrangements, duplication/deletion variants of 1 exon, loss of heterozygosity [loh], uniparental disomy [upd]) chromosome 1p-/19q- (eg, glial tumors), deletion analysis chromosome 18q- (eg, d18s55, d18s58, d18s61, d18s64, and d18s69) (eg, colon cancer), allelic imbalance assessment (ie, loss of heterozygosity) col1a1/pdgfb (t(17;22)) (eg, dermatofibrosarcoma protuberans), translocation analysis, multiple breakpoints, qualitative, and quantitative, if performed cyp21a2 (cytochrome p450, family 21, subfamily a, polypeptide 2) (eg, congenital adrenal hyperplasia, 21-hydroxylase deficiency), common variants (eg, ivs2-13g, p30l, i172n, exon 6 mutation cluster [i235n, v236e, m238k], v281l, l307ffsx6, q318x, r356w, p453s, g110vfsx21, 30-kb deletion variant) esr1/pgr (receptor 1/progesterone receptor) ratio (eg, breast cancer) igh@/bcl2 (t(14;18)) (eg, follicular lymphoma), translocation analysis; major breakpoint region (mbr) and minor cluster region (mcr) breakpoints, qualitative or quantitative mefv (mediterranean fever) (eg, familial mediterranean fever), common variants (eg, e148q, p369s, f479l, m680i, i692del, m694v, m694i, k695r, v726a, a744s, r761h) mpl (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, tpor) (eg, myeloproliferative disorder), common variants (eg, w515a, w515k, w515l, w515r) trd@ (t cell antigen receptor, delta) (eg, leukemia and lymphoma), gene rearrangement analysis, evaluation to detect abnormal clonal population uniparental disomy (upd) (eg, russell-silver syndrome, prader-willi/angelman syndrome), short tandem repeat (str) analysis A copy of the clinical notes and invoice is required.
81403 Molecular pathology procedure, level 4 (eg, analysis of single exon by dna sequence analysis, analysis of >10 amplicons using multiplex pcr in 2 or more independent reactions, mutation scanning or duplication/deletion variants of 2-5 exons) ang (angiogenin, ribonuclease, rnase a family, 5) (eg, amyotrophic lateral sclerosis), full gene sequence arx (aristaless-related homeobox) (eg, x-linked lissencephaly with ambiguous genitalia, x-linked mental retardation), duplication/deletion analysis cel (carboxyl ester lipase [bile salt-stimulated lipase]) (eg, maturity-onset diabetes of the young [mody]), targeted sequence analysis of exon 11 (eg, c.1785delc, c.1686delt) ctnnb1 (catenin [cadherin-associated protein], beta 1, 88kda) (eg, desmoid tumors), targeted sequence analysis (eg, exon 3) daz/sry (deleted in azoospermia and sex determining region y) (eg, male infertility), common deletions (eg, azfa, azfb, azfc, azfd) dnmt3a (dna [cytosine-5-]-methyltransferase 3 alpha) (eg, acute myeloid leukemia), targeted sequence analysis (eg, exon 23) epcam (epithelial cell adhesion molecule) (eg, lynch syndrome), duplication/deletion analysis f8 (coagulation factor viii) (eg, hemophilia a), inversion analysis, intron 1 and intron 22a f12 (coagulation factor xii [hageman factor]) (eg, angioedema, hereditary, type iii; factor xii deficiency), targeted sequence analysis of exon 9 fgfr3 (fibroblast growth factor receptor 3) (eg, isolated craniosynostosis), targeted sequence analysis (eg, exon 7) (for targeted sequence analysis of multiple fgfr3 exons, use 81404) gjb1 (gap junction protein, beta 1) (eg, charcot-marie-tooth x-linked), full gene sequence gnaq (guanine nucleotide-binding protein g[q] subunit alpha) (eg, uveal melanoma), common variants (eg, r183, q209) human erythrocyte antigen gene analyses (eg, slc14a1 [kidd blood group], bcam [lutheran blood group], icam4 [landsteiner-wiener blood group], slc4a1 [diego blood group], aqp1 [colton blood group], ermap [scianna blood group], rhce [rh blood group, ccee antigens], kel [kell blood group], darc [duffy blood group], gypa, gypb, gype [mns blood group], art4 [dombrock blood group]) (eg, sickle-cell disease, thalassemia, hemolytic transfusion reactions, hemolytic disease of the fetus or newborn), common variants hras (v-ha-ras harvey rat sarcoma viral oncogene homolog) (eg, costello syndrome), exon 2 sequence jak2 (janus kinase 2) (eg, myeloproliferative disorder), exon 12 sequence and exon 13 sequence, if performed kcnc3 (potassium voltage-gated channel, shaw-related subfamily, member 3) (eg, spinocerebellar ataxia), targeted sequence analysis (eg, exon 2) kcnj2 (potassium inwardly-rectifying channel, subfamily j, member 2) (eg, andersen-tawil syndrome), full gene sequence kcnj11 (potassium inwardly-rectifying channel, subfamily j, member 11) (eg, familial hyperinsulinism), full gene sequence killer cell immunoglobulin-like receptor (kir) gene family (eg, hematopoietic stem cell transplantation), genotyping of kir family genes known familial variant not otherwise specified, for gene listed in tier 1 or tier 2, or identified during a genomic sequencing procedure, dna sequence analysis, each variant exon (for a known familial variant that is considered a common variant, use specific common variant tier 1 or tier 2 code) mc4r (melanocortin 4 receptor) (eg, obesity), full gene sequence mica (mhc class i polypeptide-related sequence a) (eg, solid organ transplantation), common variants (eg, *001, *002) mpl (myeloproliferative leukemia virus oncogene, thrombopoietin receptor, tpor) (eg, myeloproliferative disorder), exon 10 sequence mt-rnr1 (mitochondrially encoded 12s rna) (eg, nonsyndromic hearing loss), full gene sequence mt-ts1 (mitochondrially encoded trna serine 1) (eg, nonsyndromic hearing loss), full gene sequence ndp (norrie disease [pseudoglioma]) (eg, norrie disease), duplication/deletion analysis nhlrc1 (nhl repeat containing 1) (eg, progressive myoclonus epilepsy), full gene sequence phox2b (paired-like homeobox 2b) (eg, congenital central hypoventilation syndrome), duplication/deletion analysis pln (phospholamban) (eg, dilated cardiomyopathy, hypertrophic cardiomyopathy), full gene sequence rhd (rh blood group, d antigen) (eg, hemolytic disease of the fetus and newborn, rh maternal/fetal compatibility), deletion analysis (eg, exons 4, 5, and 7, pseudogene) rhd (rh blood group, d antigen) (eg, hemolytic disease of the fetus and newborn, rh maternal/fetal compatibility), deletion analysis (eg, exons 4, 5, and 7, pseudogene), performed on cell-free fetal dna in maternal blood (for human erythrocyte gene analysis of rhd, use a separate unit of 81403) sh2d1a (sh2 domain containing 1a) (eg, x-linked lymphoproliferative syndrome), duplication/deletion analysis smn1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy), known familial sequence variant(s) twist1 (twist homolog 1 [drosophila]) (eg, saethre-chotzen syndrome), duplication/deletion analysis uba1 (ubiquitin-like modifier activating enzyme 1) (eg, spinal muscular atrophy, x-linked), targeted sequence analysis (eg, exon 15) vhl (von hippel-lindau tumor suppressor) (eg, von hippel-lindau familial cancer syndrome), deletion/duplication analysis vwf (von willebrand factor) (eg, von willebrand disease types 2a, 2b, 2m), targeted sequence analysis (eg, exon 28) A copy of the clinical notes and invoice is required.
81404 Molecular pathology procedure, level 5 (eg, analysis of 2-5 exons by dna sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by southern blot analysis) acads (acyl-coa dehydrogenase, c-2 to c-3 short chain) (eg, short chain acyl-coa dehydrogenase deficiency), targeted sequence analysis (eg, exons 5 and 6) aff2 (af4/fmr2 family, member 2 [fmr2]) (eg, fragile x mental retardation 2 [fraxe]), characterization of alleles (eg, expanded size and methylation status) aqp2 (aquaporin 2 [collecting duct]) (eg, nephrogenic diabetes insipidus), full gene sequence arx (aristaless related homeobox) (eg, x-linked lissencephaly with ambiguous genitalia, x-linked mental retardation), full gene sequence avpr2 (arginine vasopressin receptor 2) (eg, nephrogenic diabetes insipidus), full gene sequence bbs10 (bardet-biedl syndrome 10) (eg, bardet-biedl syndrome), full gene sequence btd (biotinidase) (eg, biotinidase deficiency), full gene sequence c10orf2 (chromosome 10 open reading frame 2) (eg, mitochondrial dna depletion syndrome), full gene sequence cav3 (caveolin 3) (eg, cav3-related distal myopathy, limb-girdle muscular dystrophy type 1c), full gene sequence cd40lg (cd40 ligand) (eg, x-linked hyper igm syndrome), full gene sequence cdkn2a (cyclin-dependent kinase inhibitor 2a) (eg, cdkn2a-related cutaneous malignant melanoma, familial atypical mole-malignant melanoma syndrome), full gene sequence clrn1 (clarin 1) (eg, usher syndrome, type 3), full gene sequence cox6b1 (cytochrome c oxidase subunit vib polypeptide 1) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence cpt2 (carnitine palmitoyltransferase 2) (eg, carnitine palmitoyltransferase ii deficiency), full gene sequence crx (cone-rod homeobox) (eg, cone-rod dystrophy 2, leber congenital amaurosis), full gene sequence cstb (cystatin b [stefin b]) (eg, unverricht-lundborg disease), full gene sequence cyp1b1 (cytochrome p450, family 1, subfamily b, polypeptide 1) (eg, primary congenital glaucoma), full gene sequence dmpk (dystrophia myotonica-protein kinase) (eg, myotonic dystrophy type 1), characterization of abnormal (eg, expanded) alleles egr2 (early growth response 2) (eg, charcot-marie-tooth), full gene sequence emd (emerin) (eg, emery-dreifuss muscular dystrophy), duplication/deletion analysis epm2a (epilepsy, progressive myoclonus type 2a, lafora disease [laforin]) (eg, progressive myoclonus epilepsy), full gene sequence fgf23 (fibroblast growth factor 23) (eg, hypophosphatemic rickets), full gene sequence fgfr2 (fibroblast growth factor receptor 2) (eg, craniosynostosis, apert syndrome, crouzon syndrome), targeted sequence analysis (eg, exons 8, 10) fgfr3 (fibroblast growth factor receptor 3) (eg, achondroplasia, hypochondroplasia), targeted sequence analysis (eg, exons 8, 11, 12, 13) fhl1 (four and a half lim domains 1) (eg, emery-dreifuss muscular dystrophy), full gene sequence fkrp (fukutin related protein) (eg, congenital muscular dystrophy type 1c [mdc1c], limb-girdle muscular dystrophy [lgmd] type 2i), full gene sequence foxg1 (forkhead box g1) (eg, rett syndrome), full gene sequence fshmd1a (facioscapulohumeral muscular dystrophy 1a) (eg, facioscapulohumeral muscular dystrophy), evaluation to detect abnormal (eg, deleted) alleles fshmd1a (facioscapulohumeral muscular dystrophy 1a) (eg, facioscapulohumeral muscular dystrophy), characterization of haplotype(s) (ie, chromosome 4a and 4b haplotypes) fxn (frataxin) (eg, friedreich ataxia), full gene sequence gh1 (growth hormone 1) (eg, growth hormone deficiency), full gene sequence gp1bb (glycoprotein ib [platelet], beta polypeptide) (eg, bernard-soulier syndrome type b), full gene sequence (for common deletion variants of alpha globin 1 and alpha globin 2 genes, use 81257) hnf1b (hnf1 homeobox b) (eg, maturity-onset diabetes of the young [mody]), duplication/deletion analysis hras (v-ha-ras harvey rat sarcoma viral oncogene homolog) (eg, costello syndrome), full gene sequence hsd3b2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) (eg, 3-beta-hydroxysteroid dehydrogenase type ii deficiency), full gene sequence hsd11b2 (hydroxysteroid [11-beta] dehydrogenase 2) (eg, mineralocorticoid excess syndrome), full gene sequence hspb1 (heat shock 27kda protein 1) (eg, charcot-marie-tooth disease), full gene sequence ins (insulin) (eg, diabetes mellitus), full gene sequence kcnj1 (potassium inwardly-rectifying channel, subfamily j, member 1) (eg, bartter syndrome), full gene sequence kcnj10 (potassium inwardly-rectifying channel, subfamily j, member 10) (eg, sesame syndrome, east syndrome, sensorineural hearing loss), full gene sequence litaf (lipopolysaccharide-induced tnf factor) (eg, charcot-marie-tooth), full gene sequence mefv (mediterranean fever) (eg, familial mediterranean fever), full gene sequence men1 (multiple endocrine neoplasia i) (eg, multiple endocrine neoplasia type 1, wermer syndrome), duplication/deletion analysis mmachc (methylmalonic aciduria [cobalamin deficiency] cblc type, with homocystinuria) (eg, methylmalonic acidemia and homocystinuria), full gene sequence mpv17 (mpv17 mitochondrial inner membrane protein) (eg, mitochondrial dna depletion syndrome), duplication/deletion analysis ndp (norrie disease [pseudoglioma]) (eg, norrie disease), full gene sequence ndufa1 (nadh dehydrogenase [ubiquinone] 1 alpha subcomplex, 1, 7.5kda) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence ndufaf2 (nadh dehydrogenase [ubiquinone] 1 alpha subcomplex, assembly factor 2) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence ndufs4 (nadh dehydrogenase [ubiquinone] fe-s protein 4, 18kda [nadh-coenzyme q reductase]) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence nipa1 (non-imprinted in prader-willi/angelman syndrome 1) (eg, spastic paraplegia), full gene sequence nlgn4x (neuroligin 4, x-linked) (eg, autism spectrum disorders), duplication/deletion analysis npc2 (niemann-pick disease, type c2 [epididymal secretory protein e1]) (eg, niemann-pick disease type c2), full gene sequence nr0b1 (nuclear receptor subfamily 0, group b, member 1) (eg, congenital adrenal hypoplasia), full gene sequence pdx1 (pancreatic and duodenal homeobox 1) (eg, maturity-onset diabetes of the young [mody]), full gene sequence phox2b (paired-like homeobox 2b) (eg, congenital central hypoventilation syndrome), full gene sequence pik3ca (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha) (eg, colorectal cancer), targeted sequence analysis (eg, exons 9 and 20) plp1 (proteolipid protein 1) (eg, pelizaeus-merzbacher disease, spastic paraplegia), duplication/deletion analysis pqbp1 (polyglutamine binding protein 1) (eg, renpenning syndrome), duplication/deletion analysis prnp (prion protein) (eg, genetic prion disease), full gene sequence prop1 (prop paired-like homeobox 1) (eg, combined pituitary hormone deficiency), full gene sequence prph2 (peripherin 2 [retinal degeneration, slow]) (eg, retinitis pigmentosa), full gene sequence prss1 (protease, serine, 1 [trypsin 1]) (eg, hereditary pancreatitis), full gene sequence raf1 (v-raf-1 murine leukemia viral oncogene homolog 1) (eg, leopard syndrome), targeted sequence analysis (eg, exons 7, 12, 14, 17) ret (ret proto-oncogene) (eg, multiple endocrine neoplasia, type 2b and familial medullary thyroid carcinoma), common variants (eg, m918t, 2647_2648delinstt, a883f) rho (rhodopsin) (eg, retinitis pigmentosa), full gene sequence rp1 (retinitis pigmentosa 1) (eg, retinitis pigmentosa), full gene sequence scn1b (sodium channel, voltage-gated, type i, beta) (eg, brugada syndrome), full gene sequence sco2 (sco cytochrome oxidase deficient homolog 2 [sco1l]) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence sdhc (succinate dehydrogenase complex, subunit c, integral membrane protein, 15kda) (eg, hereditary paraganglioma-pheochromocytoma syndrome), duplication/deletion analysis sdhd (succinate dehydrogenase complex, subunit d, integral membrane protein) (eg, hereditary paraganglioma), full gene sequence sgcg (sarcoglycan, gamma [35kda dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), duplication/deletion analysis sh2d1a (sh2 domain containing 1a) (eg, x-linked lymphoproliferative syndrome), full gene sequence slc16a2 (solute carrier family 16, member 2 [thyroid hormone transporter]) (eg, specific thyroid hormone cell transporter deficiency, allan-herndon-dudley syndrome), duplication/deletion analysis slc25a20 (solute carrier family 25 [carnitine/acylcarnitine translocase], member 20) (eg, carnitine-acylcarnitine translocase deficiency), duplication/deletion analysis slc25a4 (solute carrier family 25 [mitochondrial carrier; adenine nucleotide translocator], member 4) (eg, progressive external ophthalmoplegia), full gene sequence sod1 (superoxide dismutase 1, soluble) (eg, amyotrophic lateral sclerosis), full gene sequence spink1 (serine peptidase inhibitor, kazal type 1) (eg, hereditary pancreatitis), full gene sequence stk11 (serine/threonine kinase 11) (eg, peutz-jeghers syndrome), duplication/deletion analysis taco1 (translational activator of mitochondrial encoded cytochrome c oxidase i) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence thap1 (thap domain containing, apoptosis associated protein 1) (eg, torsion dystonia), full gene sequence tor1a (torsin family 1, member a [torsin a]) (eg, torsion dystonia), full gene sequence tp53 (tumor protein 53) (eg, tumor samples), targeted sequence analysis of 2-5 exons ttpa (tocopherol [alpha] transfer protein) (eg, ataxia), full gene sequence ttr (transthyretin) (eg, familial transthyretin amyloidosis), full gene sequence twist1 (twist homolog 1 [drosophila]) (eg, saethre-chotzen syndrome), full gene sequence tyr (tyrosinase [oculocutaneous albinism ia]) (eg, oculocutaneous albinism ia), full gene sequence ush1g (usher syndrome 1g [autosomal recessive]) (eg, usher syndrome, type 1), full gene sequence vhl (von hippel-lindau tumor suppressor) (eg, von hippel-lindau familial cancer syndrome), full gene sequence vwf (von willebrand factor) (eg, von willebrand disease type 1c), targeted sequence analysis (eg, exons 26, 27, 37) zeb2 (zinc finger e-box binding homeobox 2) (eg, mowat-wilson syndrome), duplication/deletion analysis znf41 (zinc finger protein 41) (eg, x-linked mental retardation 89), full gene sequence A copy of the clinical notes and invoice is required.
81405 Molecular pathology procedure, level 6 (eg, analysis of 6-10 exons by dna sequence analysis, mutation scanning or duplication/deletion variants of 11-25 exons, regionally targeted cytogenomic array analysis) abcd1 (atp-binding cassette, sub-family d [ald], member 1) (eg, adrenoleukodystrophy), full gene sequence acads (acyl-coa dehydrogenase, c-2 to c-3 short chain) (eg, short chain acyl-coa dehydrogenase deficiency), full gene sequence acta2 (actin, alpha 2, smooth muscle, aorta) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence actc1 (actin, alpha, cardiac muscle 1) (eg, familial hypertrophic cardiomyopathy), full gene sequence ankrd1 (ankyrin repeat domain 1) (eg, dilated cardiomyopathy), full gene sequence aptx (aprataxin) (eg, ataxia with oculomotor apraxia 1), full gene sequence ar (androgen receptor) (eg, androgen insensitivity syndrome), full gene sequence arsa (arylsulfatase a) (eg, arylsulfatase a deficiency), full gene sequence bckdha (branched chain keto acid dehydrogenase e1, alpha polypeptide) (eg, maple syrup urine disease, type 1a), full gene sequence bcs1l (bcs1-like [s. Cerevisiae]) (eg, leigh syndrome, mitochondrial complex iii deficiency, gracile syndrome), full gene sequence bmpr2 (bone morphogenetic protein receptor, type ii [serine/threonine kinase]) (eg, heritable pulmonary arterial hypertension), duplication/deletion analysis casq2 (calsequestrin 2 [cardiac muscle]) (eg, catecholaminergic polymorphic ventricular tachycardia), full gene sequence casr (calcium-sensing receptor) (eg, hypocalcemia), full gene sequence cdkl5 (cyclin-dependent kinase-like 5) (eg, early infantile epileptic encephalopathy), duplication/deletion analysis chrna4 (cholinergic receptor, nicotinic, alpha 4) (eg, nocturnal frontal lobe epilepsy), full gene sequence chrnb2 (cholinergic receptor, nicotinic, beta 2 [neuronal]) (eg, nocturnal frontal lobe epilepsy), full gene sequence cox10 (cox10 homolog, cytochrome c oxidase assembly protein) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence cox15 (cox15 homolog, cytochrome c oxidase assembly protein) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence cpox (coproporphyrinogen oxidase) (eg, hereditary coproporphyria), full gene sequence ctrc (chymotrypsin c) (eg, hereditary pancreatitis), full gene sequence cyp11b1 (cytochrome p450, family 11, subfamily b, polypeptide 1) (eg, congenital adrenal hyperplasia), full gene sequence cyp17a1 (cytochrome p450, family 17, subfamily a, polypeptide 1) (eg, congenital adrenal hyperplasia), full gene sequence cyp21a2 (cytochrome p450, family 21, subfamily a, polypeptide2) (eg, steroid 21-hydroxylase isoform, congenital adrenal hyperplasia), full gene sequence cytogenomic constitutional targeted microarray analysis of chromosome 22q13 by interrogation of genomic regions for copy number and single nucleotide polymorphism (snp) variants for chromosomal abnormalities (when performing genome-wide cytogenomic constitutional microarray analysis, see 81228, 81229) (do not report analyte-specific molecular pathology procedures separately when the specific analytes are included as part of the microarray analysis of chromosome 22q13) (do not report 88271 when performing cytogenomic microarray analysis) dbt (dihydrolipoamide branched chain transacylase e2) (eg, maple syrup urine disease, type 2), duplication/deletion analysis dcx (doublecortin) (eg, x-linked lissencephaly), full gene sequence des (desmin) (eg, myofibrillar myopathy), full gene sequence dfnb59 (deafness, autosomal recessive 59) (eg, autosomal recessive nonsyndromic hearing impairment), full gene sequence dguok (deoxyguanosine kinase) (eg, hepatocerebral mitochondrial dna depletion syndrome), full gene sequence dhcr7 (7-dehydrocholesterol reductase) (eg, smith-lemli-opitz syndrome), full gene sequence eif2b2 (eukaryotic translation initiation factor 2b, subunit 2 beta, 39kda) (eg, leukoencephalopathy with vanishing white matter), full gene sequence emd (emerin) (eg, emery-dreifuss muscular dystrophy), full gene sequence eng (endoglin) (eg, hereditary hemorrhagic telangiectasia, type 1), duplication/deletion analysis eya1 (eyes absent homolog 1 [drosophila]) (eg, branchio-oto-renal [bor] spectrum disorders), duplication/deletion analysis fgfr1 (fibroblast growth factor receptor 1) (eg, kallmann syndrome 2), full gene sequence fh (fumarate hydratase) (eg, fumarate hydratase deficiency, hereditary leiomyomatosis with renal cell cancer), full gene sequence fktn (fukutin) (eg, limb-girdle muscular dystrophy [lgmd] type 2m or 2l), full gene sequence ftsj1 (ftsj rna methyltransferase homolog 1 [e. Coli]) (eg, x-linked mental retardation 9), duplication/deletion analysis gabrg2 (gamma-aminobutyric acid [gaba] a receptor, gamma 2) (eg, generalized epilepsy with febrile seizures), full gene sequence gch1 (gtp cyclohydrolase 1) (eg, autosomal dominant dopa-responsive dystonia), full gene sequence gdap1 (ganglioside-induced differentiation-associated protein 1) (eg, charcot-marie-tooth disease), full gene sequence gfap (glial fibrillary acidic protein) (eg, alexander disease), full gene sequence ghr (growth hormone receptor) (eg, laron syndrome), full gene sequence ghrhr (growth hormone releasing hormone receptor) (eg, growth hormone deficiency), full gene sequence gla (galactosidase, alpha) (eg, fabry disease), full gene sequence hnf1a (hnf1 homeobox a) (eg, maturity-onset diabetes of the young [mody]), full gene sequence hnf1b (hnf1 homeobox b) (eg, maturity-onset diabetes of the young [mody]), full gene sequence htra1 (htra serine peptidase 1) (eg, macular degeneration), full gene sequence ids (iduronate 2-sulfatase) (eg, mucopolysacchridosis, type ii), full gene sequence il2rg (interleukin 2 receptor, gamma) (eg, x-linked severe combined immunodeficiency), full gene sequence ispd (isoprenoid synthase domain containing) (eg, muscle-eye-brain disease, walker-warburg syndrome), full gene sequence kras (kirsten rat sarcoma viral oncogene homolog) (eg, noonan syndrome), full gene sequence lamp2 (lysosomal-associated membrane protein 2) (eg, danon disease), full gene sequence ldlr (low density lipoprotein receptor) (eg, familial hypercholesterolemia), duplication/deletion analysis men1 (multiple endocrine neoplasia i) (eg, multiple endocrine neoplasia type 1, wermer syndrome), full gene sequence mmaa (methylmalonic aciduria [cobalamine deficiency] type a) (eg, mmaa-related methylmalonic acidemia), full gene sequence mmab (methylmalonic aciduria [cobalamine deficiency] type b) (eg, mmaa-related methylmalonic acidemia), full gene sequence mpi (mannose phosphate isomerase) (eg, congenital disorder of glycosylation 1b), full gene sequence mpv17 (mpv17 mitochondrial inner membrane protein) (eg, mitochondrial dna depletion syndrome), full gene sequence mpz (myelin protein zero) (eg, charcot-marie-tooth), full gene sequence mtm1 (myotubularin 1) (eg, x-linked centronuclear myopathy), duplication/deletion analysis myl2 (myosin, light chain 2, regulatory, cardiac, slow) (eg, familial hypertrophic cardiomyopathy), full gene sequence myl3 (myosin, light chain 3, alkali, ventricular, skeletal, slow) (eg, familial hypertrophic cardiomyopathy), full gene sequence myot (myotilin) (eg, limb-girdle muscular dystrophy), full gene sequence ndufs7 (nadh dehydrogenase [ubiquinone] fe-s protein 7, 20kda [nadh-coenzyme q reductase]) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence ndufs8 (nadh dehydrogenase [ubiquinone] fe-s protein 8, 23kda [nadh-coenzyme q reductase]) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence ndufv1 (nadh dehydrogenase [ubiquinone] flavoprotein 1, 51kda) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence nefl (neurofilament, light polypeptide) (eg, charcot-marie-tooth), full gene sequence nf2 (neurofibromin 2 [merlin]) (eg, neurofibromatosis, type 2), duplication/deletion analysis nlgn3 (neuroligin 3) (eg, autism spectrum disorders), full gene sequence nlgn4x (neuroligin 4, x-linked) (eg, autism spectrum disorders), full gene sequence nphp1 (nephronophthisis 1 [juvenile]) (eg, joubert syndrome), deletion analysis, and duplication analysis, if performed nphs2 (nephrosis 2, idiopathic, steroid-resistant [podocin]) (eg, steroid-resistant nephrotic syndrome), full gene sequence nsd1 (nuclear receptor binding set domain protein 1) (eg, sotos syndrome), duplication/deletion analysis otc (ornithine carbamoyltransferase) (eg, ornithine transcarbamylase deficiency), full gene sequence pafah1b1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kda]) (eg, lissencephaly, miller-dieker syndrome), duplication/deletion analysis park2 (parkinson protein 2, e3 ubiquitin protein ligase [parkin]) (eg, parkinson disease), duplication/deletion analysis pcca (propionyl coa carboxylase, alpha polypeptide) (eg, propionic acidemia, type 1), duplication/deletion analysis pcdh19 (protocadherin 19) (eg, epileptic encephalopathy), full gene sequence pdha1 (pyruvate dehydrogenase [lipoamide] alpha 1) (eg, lactic acidosis), duplication/deletion analysis pdhb (pyruvate dehydrogenase [lipoamide] beta) (eg, lactic acidosis), full gene sequence pink1 (pten induced putative kinase 1) (eg, parkinson disease), full gene sequence pklr (pyruvate kinase, liver and rbc) (eg, pyruvate kinase deficiency), full gene sequence plp1 (proteolipid protein 1) (eg, pelizaeus-merzbacher disease, spastic paraplegia), full gene sequence pou1f1 (pou class 1 homeobox 1) (eg, combined pituitary hormone deficiency), full gene sequence prx (periaxin) (eg, charcot-marie-tooth disease), full gene sequence pqbp1 (polyglutamine binding protein 1) (eg, renpenning syndrome), full gene sequence psen1 (presenilin 1) (eg, alzheimer disease), full gene sequence rab7a (rab7a, member ras oncogene family) (eg, charcot-marie-tooth disease), full gene sequence rai1 (retinoic acid induced 1) (eg, smith-magenis syndrome), full gene sequence reep1 (receptor accessory protein 1) (eg, spastic paraplegia), full gene sequence ret (ret proto-oncogene) (eg, multiple endocrine neoplasia, type 2a and familial medullary thyroid carcinoma), targeted sequence analysis (eg, exons 10, 11, 13-16) rps19 (ribosomal protein s19) (eg, diamond-blackfan anemia), full gene sequence rrm2b (ribonucleotide reductase m2 b [tp53 inducible]) (eg, mitochondrial dna depletion), full gene sequence sco1 (sco cytochrome oxidase deficient homolog 1) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence sdhb (succinate dehydrogenase complex, subunit b, iron sulfur) (eg, hereditary paraganglioma), full gene sequence sdhc (succinate dehydrogenase complex, subunit c, integral membrane protein, 15kda) (eg, hereditary paraganglioma-pheochromocytoma syndrome), full gene sequence sgca (sarcoglycan, alpha [50kda dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence sgcb (sarcoglycan, beta [43kda dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence sgcd (sarcoglycan, delta [35kda dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence sgce (sarcoglycan, epsilon) (eg, myoclonic dystonia), duplication/deletion analysis sgcg (sarcoglycan, gamma [35kda dystrophin-associated glycoprotein]) (eg, limb-girdle muscular dystrophy), full gene sequence shoc2 (soc-2 suppressor of clear homolog) (eg, noonan-like syndrome with loose anagen hair), full gene sequence shox (short stature homeobox) (eg, langer mesomelic dysplasia), full gene sequence sil1 (sil1 homolog, endoplasmic reticulum chaperone [s. Cerevisiae]) (eg, ataxia), full gene sequence slc2a1 (solute carrier family 2 [facilitated glucose transporter], member 1) (eg, glucose transporter type 1 [glut 1] deficiency syndrome), full gene sequence slc16a2 (solute carrier family 16, member 2 [thyroid hormone transporter]) (eg, specific thyroid hormone cell transporter deficiency, allan-herndon-dudley syndrome), full gene sequence slc22a5 (solute carrier family 22 [organic cation/carnitine transporter], member 5) (eg, systemic primary carnitine deficiency), full gene sequence slc25a20 (solute carrier family 25 [carnitine/acylcarnitine translocase], member 20) (eg, carnitine-acylcarnitine translocase deficiency), full gene sequence smad4 (smad family member 4) (eg, hemorrhagic telangiectasia syndrome, juvenile polyposis), duplication/deletion analysis smn1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy), full gene sequence spast (spastin) (eg, spastic paraplegia), duplication/deletion analysis spg7 (spastic paraplegia 7 [pure and complicated autosomal recessive]) (eg, spastic paraplegia), duplication/deletion analysis spred1 (sprouty-related, evh1 domain containing 1) (eg, legius syndrome), full gene sequence stat3 (signal transducer and activator of transcription 3 [acute-phase response factor]) (eg, autosomal dominant hyper-ige syndrome), targeted sequence analysis (eg, exons 12, 13, 14, 16, 17, 20, 21) stk11 (serine/threonine kinase 11) (eg, peutz-jeghers syndrome), full gene sequence surf1 (surfeit 1) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence tardbp (tar dna binding protein) (eg, amyotrophic lateral sclerosis), full gene sequence tbx5 (t-box 5) (eg, holt-oram syndrome), full gene sequence tcf4 (transcription factor 4) (eg, pitt-hopkins syndrome), duplication/deletion analysis tgfbr1 (transforming growth factor, beta receptor 1) (eg, marfan syndrome), full gene sequence tgfbr2 (transforming growth factor, beta receptor 2) (eg, marfan syndrome), full gene sequence thrb (thyroid hormone receptor, beta) (eg, thyroid hormone resistance, thyroid hormone beta receptor deficiency), full gene sequence or targeted sequence analysis of >5 exons tk2 (thymidine kinase 2, mitochondrial) (eg, mitochondrial dna depletion syndrome), full gene sequence tnnc1 (troponin c type 1 [slow]) (eg, hypertrophic cardiomyopathy or dilated cardiomyopathy), full gene sequence tnni3 (troponin i, type 3 [cardiac]) (eg, familial hypertrophic cardiomyopathy), full gene sequence tp53 (tumor protein 53) (eg, li-fraumeni syndrome, tumor samples), full gene sequence or targeted sequence analysis of >5 exons tpm1 (tropomyosin 1 [alpha]) (eg, familial hypertrophic cardiomyopathy), full gene sequence tsc1 (tuberous sclerosis 1) (eg, tuberous sclerosis), duplication/deletion analysis tymp (thymidine phosphorylase) (eg, mitochondrial dna depletion syndrome), full gene sequence vwf (von willebrand factor) (eg, von willebrand disease type 2n), targeted sequence analysis (eg, exons 18-20, 23-25) wt1 (wilms tumor 1) (eg, denys-drash syndrome, familial wilms tumor), full gene sequence zeb2 (zinc finger e-box binding homeobox 2) (eg, mowat-wilson syndrome), full gene sequence A copy of the clinical notes and invoice is required.
81406 Molecular pathology procedure, level 7 (eg, analysis of 11-25 exons by dna sequence analysis, mutation scanning or duplication/deletion variants of 26-50 exons, cytogenomic array analysis for neoplasia) acadvl (acyl-coa dehydrogenase, very long chain) (eg, very long chain acyl-coenzyme a dehydrogenase deficiency), full gene sequence actn4 (actinin, alpha 4) (eg, focal segmental glomerulosclerosis), full gene sequence afg3l2 (afg3 atpase family gene 3-like 2 [s. Cerevisiae]) (eg, spinocerebellar ataxia), full gene sequence aire (autoimmune regulator) (eg, autoimmune polyendocrinopathy syndrome type 1), full gene sequence aldh7a1 (aldehyde dehydrogenase 7 family, member a1) (eg, pyridoxine-dependent epilepsy), full gene sequence ano5 (anoctamin 5) (eg, limb-girdle muscular dystrophy), full gene sequence anos1 (anosmin-1) (eg, kallmann syndrome 1), full gene sequence app (amyloid beta [a4] precursor protein) (eg, alzheimer disease), full gene sequence ass1 (argininosuccinate synthase 1) (eg, citrullinemia type i), full gene sequence atl1 (atlastin gtpase 1) (eg, spastic paraplegia), full gene sequence atp1a2 (atpase, na+/k+ transporting, alpha 2 polypeptide) (eg, familial hemiplegic migraine), full gene sequence atp7b (atpase, cu++ transporting, beta polypeptide) (eg, wilson disease), full gene sequence bbs1 (bardet-biedl syndrome 1) (eg, bardet-biedl syndrome), full gene sequence bbs2 (bardet-biedl syndrome 2) (eg, bardet-biedl syndrome), full gene sequence bckdhb (branched-chain keto acid dehydrogenase e1, beta polypeptide) (eg, maple syrup urine disease, type 1b), full gene sequence best1 (bestrophin 1) (eg, vitelliform macular dystrophy), full gene sequence bmpr2 (bone morphogenetic protein receptor, type ii [serine/threonine kinase]) (eg, heritable pulmonary arterial hypertension), full gene sequence braf (b-raf proto-oncogene, serine/threonine kinase) (eg, noonan syndrome), full gene sequence bscl2 (berardinelli-seip congenital lipodystrophy 2 [seipin]) (eg, berardinelli-seip congenital lipodystrophy), full gene sequence btk (bruton agammaglobulinemia tyrosine kinase) (eg, x-linked agammaglobulinemia), full gene sequence cacnb2 (calcium channel, voltage-dependent, beta 2 subunit) (eg, brugada syndrome), full gene sequence capn3 (calpain 3) (eg, limb-girdle muscular dystrophy [lgmd] type 2a, calpainopathy), full gene sequence cbs (cystathionine-beta-synthase) (eg, homocystinuria, cystathionine beta-synthase deficiency), full gene sequence cdh1 (cadherin 1, type 1, e-cadherin [epithelial]) (eg, hereditary diffuse gastric cancer), full gene sequence cdkl5 (cyclin-dependent kinase-like 5) (eg, early infantile epileptic encephalopathy), full gene sequence clcn1 (chloride channel 1, skeletal muscle) (eg, myotonia congenita), full gene sequence clcnkb (chloride channel, voltage-sensitive kb) (eg, bartter syndrome 3 and 4b), full gene sequence cntnap2 (contactin-associated protein-like 2) (eg, pitt-hopkins-like syndrome 1), full gene sequence col6a2 (collagen, type vi, alpha 2) (eg, collagen type vi-related disorders), duplication/deletion analysis cpt1a (carnitine palmitoyltransferase 1a [liver]) (eg, carnitine palmitoyltransferase 1a [cpt1a] deficiency), full gene sequence crb1 (crumbs homolog 1 [drosophila]) (eg, leber congenital amaurosis), full gene sequence crebbp (creb binding protein) (eg, rubinstein-taybi syndrome), duplication/deletion analysis cytogenomic microarray analysis, neoplasia (eg, interrogation of copy number, and loss-of-heterozygosity via single nucleotide polymorphism [snp]-based comparative genomic hybridization [cgh] microarray analysis) (do not report analyte-specific molecular pathology procedures separately when the specific analytes are included as part of the cytogenomic microarray analysis for neoplasia) (do not report 88271 when performing cytogenomic microarray analysis) dbt (dihydrolipoamide branched chain transacylase e2) (eg, maple syrup urine disease, type 2), full gene sequence dlat (dihydrolipoamide s-acetyltransferase) (eg, pyruvate dehydrogenase e2 deficiency), full gene sequence dld (dihydrolipoamide dehydrogenase) (eg, maple syrup urine disease, type iii), full gene sequence dsc2 (desmocollin) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 11), full gene sequence dsg2 (desmoglein 2) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 10), full gene sequence dsp (desmoplakin) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 8), full gene sequence efhc1 (ef-hand domain [c-terminal] containing 1) (eg, juvenile myoclonic epilepsy), full gene sequence eif2b3 (eukaryotic translation initiation factor 2b, subunit 3 gamma, 58kda) (eg, leukoencephalopathy with vanishing white matter), full gene sequence eif2b4 (eukaryotic translation initiation factor 2b, subunit 4 delta, 67kda) (eg, leukoencephalopathy with vanishing white matter), full gene sequence eif2b5 (eukaryotic translation initiation factor 2b, subunit 5 epsilon, 82kda) (eg, childhood ataxia with central nervous system hypomyelination/vanishing white matter), full gene sequence eng (endoglin) (eg, hereditary hemorrhagic telangiectasia, type 1), full gene sequence eya1 (eyes absent homolog 1 [drosophila]) (eg, branchio-oto-renal [bor] spectrum disorders), full gene sequence f8 (coagulation factor viii) (eg, hemophilia a), duplication/deletion analysis fah (fumarylacetoacetate hydrolase [fumarylacetoacetase]) (eg, tyrosinemia, type 1), full gene sequence fastkd2 (fast kinase domains 2) (eg, mitochondrial respiratory chain complex iv deficiency), full gene sequence fig4 (fig4 homolog, sac1 lipid phosphatase domain containing [s. Cerevisiae]) (eg, charcot-marie-tooth disease), full gene sequence ftsj1 (ftsj rna methyltransferase homolog 1 [e. Coli]) (eg, x-linked mental retardation 9), full gene sequence fus (fused in sarcoma) (eg, amyotrophic lateral sclerosis), full gene sequence gaa (glucosidase, alpha; acid) (eg, glycogen storage disease type ii [pompe disease]), full gene sequence galc (galactosylceramidase) (eg, krabbe disease), full gene sequence galt (galactose-1-phosphate uridylyltransferase) (eg, galactosemia), full gene sequence gars (glycyl-trna synthetase) (eg, charcot-marie-tooth disease), full gene sequence gcdh (glutaryl-coa dehydrogenase) (eg, glutaricacidemia type 1), full gene sequence gck (glucokinase [hexokinase 4]) (eg, maturity-onset diabetes of the young [mody]), full gene sequence glud1 (glutamate dehydrogenase 1) (eg, familial hyperinsulinism), full gene sequence gne (glucosamine [udp-n-acetyl]-2-epimerase/n-acetylmannosamine kinase) (eg, inclusion body myopathy 2 [ibm2], nonaka myopathy), full gene sequence grn (granulin) (eg, frontotemporal dementia), full gene sequence hadha (hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase [trifunctional protein] alpha subunit) (eg, long chain acyl-coenzyme a dehydrogenase deficiency), full gene sequence hadhb (hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase [trifunctional protein], beta subunit) (eg, trifunctional protein deficiency), full gene sequence hexa (hexosaminidase a, alpha polypeptide) (eg, tay-sachs disease), full gene sequence hlcs (hlcs holocarboxylase synthetase) (eg, holocarboxylase synthetase deficiency), full gene sequence hmbs (hydroxymethylbilane synthase) (eg, acute intermittent porphyria), full gene sequence hnf4a (hepatocyte nuclear factor 4, alpha) (eg, maturity-onset diabetes of the young [mody]), full gene sequence idua (iduronidase, alpha-l-) (eg, mucopolysaccharidosis type i), full gene sequence inf2 (inverted formin, fh2 and wh2 domain containing) (eg, focal segmental glomerulosclerosis), full gene sequence ivd (isovaleryl-coa dehydrogenase) (eg, isovaleric acidemia), full gene sequence jag1 (jagged 1) (eg, alagille syndrome), duplication/deletion analysis jup (junction plakoglobin) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 11), full gene sequence kcnh2 (potassium voltage-gated channel, subfamily h [eag-related], member 2) (eg, short qt syndrome, long qt syndrome), full gene sequence kcnq1 (potassium voltage-gated channel, kqt-like subfamily, member 1) (eg, short qt syndrome, long qt syndrome), full gene sequence kcnq2 (potassium voltage-gated channel, kqt-like subfamily, member 2) (eg, epileptic encephalopathy), full gene sequence ldb3 (lim domain binding 3) (eg, familial dilated cardiomyopathy, myofibrillar myopathy), full gene sequence ldlr (low density lipoprotein receptor) (eg, familial hypercholesterolemia), full gene sequence lepr (leptin receptor) (eg, obesity with hypogonadism), full gene sequence lhcgr (luteinizing hormone/choriogonadotropin receptor) (eg, precocious male puberty), full gene sequence lmna (lamin a/c) (eg, emery-dreifuss muscular dystrophy [edmd1, 2 and 3] limb-girdle muscular dystrophy [lgmd] type 1b, dilated cardiomyopathy [cmd1a], familial partial lipodystrophy [fpld2]), full gene sequence lrp5 (low density lipoprotein receptor-related protein 5) (eg, osteopetrosis), full gene sequence map2k1 (mitogen-activated protein kinase 1) (eg, cardiofaciocutaneous syndrome), full gene sequence map2k2 (mitogen-activated protein kinase 2) (eg, cardiofaciocutaneous syndrome), full gene sequence mapt (microtubule-associated protein tau) (eg, frontotemporal dementia), full gene sequence mccc1 (methylcrotonoyl-coa carboxylase 1 [alpha]) (eg, 3-methylcrotonyl-coa carboxylase deficiency), full gene sequence mccc2 (methylcrotonoyl-coa carboxylase 2 [beta]) (eg, 3-methylcrotonyl carboxylase deficiency), full gene sequence mfn2 (mitofusin 2) (eg, charcot-marie-tooth disease), full gene sequence mtm1 (myotubularin 1) (eg, x-linked centronuclear myopathy), full gene sequence mut (methylmalonyl coa mutase) (eg, methylmalonic acidemia), full gene sequence mutyh (muty homolog [e. Coli]) (eg, myh-associated polyposis), full gene sequence ndufs1 (nadh dehydrogenase [ubiquinone] fe-s protein 1, 75kda [nadh-coenzyme q reductase]) (eg, leigh syndrome, mitochondrial complex i deficiency), full gene sequence nf2 (neurofibromin 2 [merlin]) (eg, neurofibromatosis, type 2), full gene sequence notch3 (notch 3) (eg, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [cadasil]), targeted sequence analysis (eg, exons 1-23) npc1 (niemann-pick disease, type c1) (eg, niemann-pick disease), full gene sequence nphp1 (nephronophthisis 1 [juvenile]) (eg, joubert syndrome), full gene sequence nsd1 (nuclear receptor binding set domain protein 1) (eg, sotos syndrome), full gene sequence opa1 (optic atrophy 1) (eg, optic atrophy), duplication/deletion analysis optn (optineurin) (eg, amyotrophic lateral sclerosis), full gene sequence pafah1b1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 [45kda]) (eg, lissencephaly, miller-dieker syndrome), full gene sequence pah (phenylalanine hydroxylase) (eg, phenylketonuria), full gene sequence palb2 (partner and localizer of brca2) (eg, breast and pancreatic cancer), full gene sequence park2 (parkinson protein 2, e3 ubiquitin protein ligase [parkin]) (eg, parkinson disease), full gene sequence pax2 (paired box 2) (eg, renal coloboma syndrome), full gene sequence pc (pyruvate carboxylase) (eg, pyruvate carboxylase deficiency), full gene sequence pcca (propionyl coa carboxylase, alpha polypeptide) (eg, propionic acidemia, type 1), full gene sequence pccb (propionyl coa carboxylase, beta polypeptide) (eg, propionic acidemia), full gene sequence pcdh15 (protocadherin-related 15) (eg, usher syndrome type 1f), duplication/deletion analysis pcsk9 (proprotein convertase subtilisin/kexin type 9) (eg, familial hypercholesterolemia), full gene sequence pdha1 (pyruvate dehydrogenase [lipoamide] alpha 1) (eg, lactic acidosis), full gene sequence pdhx (pyruvate dehydrogenase complex, component x) (eg, lactic acidosis), full gene sequence phex (phosphate-regulating endopeptidase homolog, x-linked) (eg, hypophosphatemic rickets), full gene sequence pkd2 (polycystic kidney disease 2 [autosomal dominant]) (eg, polycystic kidney disease), full gene sequence pkp2 (plakophilin 2) (eg, arrhythmogenic right ventricular dysplasia/cardiomyopathy 9), full gene sequence pnkd (paroxysmal nonkinesigenic dyskinesia) (eg, paroxysmal nonkinesigenic dyskinesia), full gene sequence polg (polymerase [dna directed], gamma) (eg, alpers-huttenlocher syndrome, autosomal dominant progressive external ophthalmoplegia), full gene sequence pomgnt1 (protein o-linked mannose beta1,2-n acetylglucosaminyltransferase) (eg, muscle-eye-brain disease, walker-warburg syndrome), full gene sequence pomt1 (protein-o-mannosyltransferase 1) (eg, limb-girdle muscular dystrophy [lgmd] type 2k, walker-warburg syndrome), full gene sequence pomt2 (protein-o-mannosyltransferase 2) (eg, limb-girdle muscular dystrophy [lgmd] type 2n, walker-warburg syndrome), full gene sequence ppox (protoporphyrinogen oxidase) (eg, variegate porphyria), full gene sequence prkag2 (protein kinase, amp-activated, gamma 2 non-catalytic subunit) (eg, familial hypertrophic cardiomyopathy with wolff-parkinson-white syndrome, lethal congenital glycogen storage disease of heart), full gene sequence prkcg (protein kinase c, gamma) (eg, spinocerebellar ataxia), full gene sequence psen2 (presenilin 2 [alzheimer disease 4]) (eg, alzheimer disease), full gene sequence ptpn11 (protein tyrosine phosphatase, non-receptor type 11) (eg, noonan syndrome, leopard syndrome), full gene sequence pygm (phosphorylase, glycogen, muscle) (eg, glycogen storage disease type v, mcardle disease), full gene sequence raf1 (v-raf-1 murine leukemia viral oncogene homolog 1) (eg, leopard syndrome), full gene sequence ret (ret proto-oncogene) (eg, hirschsprung disease), full gene sequence rpe65 (retinal pigment epithelium-specific protein 65kda) (eg, retinitis pigmentosa, leber congenital amaurosis), full gene sequence ryr1 (ryanodine receptor 1, skeletal) (eg, malignant hyperthermia), targeted sequence analysis of exons with functionally-confirmed mutations scn4a (sodium channel, voltage-gated, type iv, alpha subunit) (eg, hyperkalemic periodic paralysis), full gene sequence scnn1a (sodium channel, nonvoltage-gated 1 alpha) (eg, pseudohypoaldosteronism), full gene sequence scnn1b (sodium channel, nonvoltage-gated 1, beta) (eg, liddle syndrome, pseudohypoaldosteronism), full gene sequence scnn1g (sodium channel, nonvoltage-gated 1, gamma) (eg, liddle syndrome, pseudohypoaldosteronism), full gene sequence sdha (succinate dehydrogenase complex, subunit a, flavoprotein [fp]) (eg, leigh syndrome, mitochondrial complex ii deficiency), full gene sequence setx (senataxin) (eg, ataxia), full gene sequence sgce (sarcoglycan, epsilon) (eg, myoclonic dystonia), full gene sequence sh3tc2 (sh3 domain and tetratricopeptide repeats 2) (eg, charcot-marie-tooth disease), full gene sequence slc9a6 (solute carrier family 9 [sodium/hydrogen exchanger], member 6) (eg, christianson syndrome), full gene sequence slc26a4 (solute carrier family 26, member 4) (eg, pendred syndrome), full gene sequence slc37a4 (solute carrier family 37 [glucose-6-phosphate transporter], member 4) (eg, glycogen storage disease type ib), full gene sequence smad4 (smad family member 4) (eg, hemorrhagic telangiectasia syndrome, juvenile polyposis), full gene sequence sos1 (son of sevenless homolog 1) (eg, noonan syndrome, gingival fibromatosis), full gene sequence spast (spastin) (eg, spastic paraplegia), full gene sequence spg7 (spastic paraplegia 7 [pure and complicated autosomal recessive]) (eg, spastic paraplegia), full gene sequence stxbp1 (syntaxin-binding protein 1) (eg, epileptic encephalopathy), full gene sequence taz (tafazzin) (eg, methylglutaconic aciduria type 2, barth syndrome), full gene sequence tcf4 (transcription factor 4) (eg, pitt-hopkins syndrome), full gene sequence th (tyrosine hydroxylase) (eg, segawa syndrome), full gene sequence tmem43 (transmembrane protein 43) (eg, arrhythmogenic right ventricular cardiomyopathy), full gene sequence tnnt2 (troponin t, type 2 [cardiac]) (eg, familial hypertrophic cardiomyopathy), full gene sequence trpc6 (transient receptor potential cation channel, subfamily c, member 6) (eg, focal segmental glomerulosclerosis), full gene sequence tsc1 (tuberous sclerosis 1) (eg, tuberous sclerosis), full gene sequence tsc2 (tuberous sclerosis 2) (eg, tuberous sclerosis), duplication/deletion analysis ube3a (ubiquitin protein ligase e3a) (eg, angelman syndrome), full gene sequence umod (uromodulin) (eg, glomerulocystic kidney disease with hyperuricemia and isosthenuria), full gene sequence vwf (von willebrand factor) (von willebrand disease type 2a), extended targeted sequence analysis (eg, exons 11-16, 24-26, 51, 52) was (wiskott-aldrich syndrome [eczema-thrombocytopenia]) (eg, wiskott-aldrich syndrome), full gene sequence A copy of the clinical notes and invoice is required.
81407 Molecular pathology procedure, level 8 (eg, analysis of 26-50 exons by dna sequence analysis, mutation scanning or duplication/deletion variants of >50 exons, sequence analysis of multiple genes on one platform) abcc8 (atp-binding cassette, sub-family c [cftr/mrp], member 8) (eg, familial hyperinsulinism), full gene sequence agl (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase) (eg, glycogen storage disease type iii), full gene sequence ahi1 (abelson helper integration site 1) (eg, joubert syndrome), full gene sequence aspm (asp [abnormal spindle] homolog, microcephaly associated [drosophila]) (eg, primary microcephaly), full gene sequence cacna1a (calcium channel, voltage-dependent, p/q type, alpha 1a subunit) (eg, familial hemiplegic migraine), full gene sequence chd7 (chromodomain helicase dna binding protein 7) (eg, charge syndrome), full gene sequence col4a4 (collagen, type iv, alpha 4) (eg, alport syndrome), full gene sequence col4a5 (collagen, type iv, alpha 5) (eg, alport syndrome), duplication/deletion analysis col6a1 (collagen, type vi, alpha 1) (eg, collagen type vi-related disorders), full gene sequence col6a2 (collagen, type vi, alpha 2) (eg, collagen type vi-related disorders), full gene sequence col6a3 (collagen, type vi, alpha 3) (eg, collagen type vi-related disorders), full gene sequence crebbp (creb binding protein) (eg, rubinstein-taybi syndrome), full gene sequence f8 (coagulation factor viii) (eg, hemophilia a), full gene sequence jag1 (jagged 1) (eg, alagille syndrome), full gene sequence kdm5c (lysine [k]-specific demethylase 5c) (eg, x-linked mental retardation), full gene sequence kiaa0196 (kiaa0196) (eg, spastic paraplegia), full gene sequence l1cam (l1 cell adhesion molecule) (eg, masa syndrome, x-linked hydrocephaly), full gene sequence lamb2 (laminin, beta 2 [laminin s]) (eg, pierson syndrome), full gene sequence mybpc3 (myosin binding protein c, cardiac) (eg, familial hypertrophic cardiomyopathy), full gene sequence myh6 (myosin, heavy chain 6, cardiac muscle, alpha) (eg, familial dilated cardiomyopathy), full gene sequence myh7 (myosin, heavy chain 7, cardiac muscle, beta) (eg, familial hypertrophic cardiomyopathy, liang distal myopathy), full gene sequence myo7a (myosin viia) (eg, usher syndrome, type 1), full gene sequence notch1 (notch 1) (eg, aortic valve disease), full gene sequence nphs1 (nephrosis 1, congenital, finnish type [nephrin]) (eg, congenital finnish nephrosis), full gene sequence opa1 (optic atrophy 1) (eg, optic atrophy), full gene sequence pcdh15 (protocadherin-related 15) (eg, usher syndrome, type 1), full gene sequence pkd1 (polycystic kidney disease 1 [autosomal dominant]) (eg, polycystic kidney disease), full gene sequence plce1 (phospholipase c, epsilon 1) (eg, nephrotic syndrome type 3), full gene sequence scn1a (sodium channel, voltage-gated, type 1, alpha subunit) (eg, generalized epilepsy with febrile seizures), full gene sequence scn5a (sodium channel, voltage-gated, type v, alpha subunit) (eg, familial dilated cardiomyopathy), full gene sequence slc12a1 (solute carrier family 12 [sodium/potassium/chloride transporters], member 1) (eg, bartter syndrome), full gene sequence slc12a3 (solute carrier family 12 [sodium/chloride transporters], member 3) (eg, gitelman syndrome), full gene sequence spg11 (spastic paraplegia 11 [autosomal recessive]) (eg, spastic paraplegia), full gene sequence sptbn2 (spectrin, beta, non-erythrocytic 2) (eg, spinocerebellar ataxia), full gene sequence tmem67 (transmembrane protein 67) (eg, joubert syndrome), full gene sequence tsc2 (tuberous sclerosis 2) (eg, tuberous sclerosis), full gene sequence ush1c (usher syndrome 1c [autosomal recessive, severe]) (eg, usher syndrome, type 1), full gene sequence vps13b (vacuolar protein sorting 13 homolog b [yeast]) (eg, cohen syndrome), duplication/deletion analysis wdr62 (wd repeat domain 62) (eg, primary autosomal recessive microcephaly), full gene sequence A copy of the clinical notes and invoice is required.
81408 Molecular pathology procedure, level 9 (eg, analysis of >50 exons in a single gene by dna sequence analysis) abca4 (atp-binding cassette, sub-family a [abc1], member 4) (eg, stargardt disease, age-related macular degeneration), full gene sequence atm (ataxia telangiectasia mutated) (eg, ataxia telangiectasia), full gene sequence cdh23 (cadherin-related 23) (eg, usher syndrome, type 1), full gene sequence cep290 (centrosomal protein 290kda) (eg, joubert syndrome), full gene sequence col1a1 (collagen, type i, alpha 1) (eg, osteogenesis imperfecta, type i), full gene sequence col1a2 (collagen, type i, alpha 2) (eg, osteogenesis imperfecta, type i), full gene sequence col4a1 (collagen, type iv, alpha 1) (eg, brain small-vessel disease with hemorrhage), full gene sequence col4a3 (collagen, type iv, alpha 3 [goodpasture antigen]) (eg, alport syndrome), full gene sequence col4a5 (collagen, type iv, alpha 5) (eg, alport syndrome), full gene sequence dmd (dystrophin) (eg, duchenne/becker muscular dystrophy), full gene sequence dysf (dysferlin, limb girdle muscular dystrophy 2b [autosomal recessive]) (eg, limb-girdle muscular dystrophy), full gene sequence fbn1 (fibrillin 1) (eg, marfan syndrome), full gene sequence itpr1 (inositol 1,4,5-trisphosphate receptor, type 1) (eg, spinocerebellar ataxia), full gene sequence lama2 (laminin, alpha 2) (eg, congenital muscular dystrophy), full gene sequence lrrk2 (leucine-rich repeat kinase 2) (eg, parkinson disease), full gene sequence myh11 (myosin, heavy chain 11, smooth muscle) (eg, thoracic aortic aneurysms and aortic dissections), full gene sequence neb (nebulin) (eg, nemaline myopathy 2), full gene sequence nf1 (neurofibromin 1) (eg, neurofibromatosis, type 1), full gene sequence pkhd1 (polycystic kidney and hepatic disease 1) (eg, autosomal recessive polycystic kidney disease), full gene sequence ryr1 (ryanodine receptor 1, skeletal) (eg, malignant hyperthermia), full gene sequence ryr2 (ryanodine receptor 2 [cardiac]) (eg, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular dysplasia), full gene sequence or targeted sequence analysis of > 50 exons ush2a (usher syndrome 2a [autosomal recessive, mild]) (eg, usher syndrome, type 2), full gene sequence vps13b (vacuolar protein sorting 13 homolog b [yeast]) (eg, cohen syndrome), full gene sequence vwf (von willebrand factor) (eg, von willebrand disease types 1 and 3), full gene sequence  A copy of the clinical notes and invoice is required.
81410 Aortic dysfunction or dilation (eg, marfan syndrome, loeys dietz syndrome, ehler danlos syndrome type iv, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including fbn1, tgfbr1, tgfbr2, col3a1, myh11, acta2, slc2a10, smad3, and mylk A copy of the clinical notes is required.
81411 Aortic dysfunction or dilation (eg, marfan syndrome, loeys dietz syndrome, ehler danlos syndrome type iv, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for tgfbr1, tgfbr2, myh11, and col3a1 A copy of the clinical notes is required.
81415 Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis A copy of the clinical notes is required.
81416 Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
81417 Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome) A copy of the clinical notes is required.
81422 Fetal chromosomal microdeletion(s) genomic, sequence analysis (eg, DiGeorge syndrome, Cri-du-chat syndrome), circulating cell-free fetal DNA in maternal blood A copy of the clinical notes is required.
81425 Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis A copy of the clinical notes is required.
81426 Genome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator genome (eg, parents, siblings) (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
81427 Genome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained genome sequence (eg, updated knowledge or unrelated condition/syndrome) A copy of the clinical notes is required.
81430 Hearing loss (eg, nonsyndromic hearing loss, usher syndrome, pendred syndrome); genomic sequence analysis panel, must include sequencing of at least 60 genes, including cdh23, clrn1, gjb2, gpr98, mtrnr1, myo7a, myo15a, pcdh15, otof, slc26a4, tmc1, tmprss3 A copy of the clinical notes is required.
81431 Hearing loss (eg, nonsyndromic hearing loss, usher syndrome, pendred syndrome); duplication/deletion analysis panel, must include copy number analyses for strc and dfnb1 deletions in gjb2 and gjb6 genes  A copy of the clinical notes is required.
81435 Hereditary colon cancer syndromes (eg, lynch syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, must include analysis of at least 7 genes, including apc, chek2, mlh1, msh2, msh6, mutyh, and pms2  A copy of the clinical notes is required.
81436 Hereditary colon cancer syndromes (eg, lynch syndrome, familial adenomatosis polyposis); duplication/deletion gene analysis panel, must include analysis of at least 8 genes, including apc, mlh1, msh2, msh6, pms2, epcam, chek2, and mutyh  A copy of the clinical notes is required.
81439 Inherited cardiomyopathy (eg, hypertropic cardiomyopathy, dilated cardiomyoptha, arrhythmogenic right ventriicular cariomyopathy) genomic sequence analysis panel, must include sequencing of at least 5 genes, including DSG2, MYBPC3, MYH7, PKP2, and TTN A copy of the clinical notes is required.
81440 Nuclear encoded mitochondrial genes (eg, neurologic or myopathic phenotypes), genomic sequence panel, must include analysis of at least 100 genes, including bcs1l, c10orf2, coq2, cox10, dguok, mpv17, opa1, pdss2, polg, polg2, rrm2b, sco1, sco2, slc25a4, sucla2, suclg1, taz, tk2, and tymp A copy of the clinical notes is required.
81445 Targeted genomic sequence analysis panel, solid organ neoplasm, dna analysis, 5-50 genes (eg, alk, braf, cdkn2a, egfr, erbb2, kit, kras, nras, met, pdgfra, pdgfrb, pgr, pik3ca, pten, ret), interrogation for sequence variants and copy number variants or rearrangements, if performed A copy of the clinical notes is required.
81450 Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, dna and rna analysis when performed, 5-50 genes (eg, braf, cebpa, dnmt3a, ezh2, flt3, idh1, idh2, jak2, kras, kit, mll, nras, npm1, notch1), interrogation for sequence variants A copy of the clinical notes is required.
81455 Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm, dna and rna analysis when performed, 51 or greater genes (eg, alk, braf, cdkn2a, cebpa, dnmt3a, egfr, erbb2, ezh2, flt3, idh1, idh2, jak2, kit, kras, mll, npm1, nras, met, notch1, pdgfra, pdgfrb, pgr, pik3ca, pten, ret), interrogation for sequence variants and copy number variants or rearrangements, if performed A copy of the clinical notes is required.
81460 Whole mitochondrial genome (eg, leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [melas], myoclonic epilepsy with ragged-red fibers [merff], neuropathy, ataxia, and retinitis pigmentosa [narp], leber hereditary opic neuropathy [lhon]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection A copy of the clinical notes is required.
81465 Whole mitochondrial genome large deletion analysis panel (eg, kearns-sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed A copy of the clinical notes is required.
81500 Oncology (ovarian), biochemical assays of two proteins (ca-125 and he4), utilizing serum, with menopausal status, algorithm reported as a risk score A copy of the clinical notes is required.
81503 Oncology (ovarian), biochemical assays of five proteins (ca-125, apoliproprotein a1, beta-2 microglobulin, transferrin, and pre-albumin), utilizing serum, algorithm reported as a risk score A copy of the clinical notes is required.
81518 Oncology (breast), mrna, gene expression profiling by real-time rt-pcr of 11 genes (7 content and 4 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithms reported as percentage risk for metastatic recurrence and likelihood of benefit from extended endocrine therapy A copy of the clinical notes is required.
82777 Galectin-3 A copy of the clinical notes is required.
81401 Molecular pathology procedure, level 5 (eg, analysis of 2-5 exons by dna sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by southern blot analysis) btd (biotinidase) (eg, biotinidase deficiency), full gene sequence cyp1b1 (cytochrome p450, family 1, subfamily b, polypeptide 1) (eg, primary congenital glaucoma), full gene sequence dmpk (dystrophia myotonica-protein kinase) (eg, myotonic dystrophy type 1), characterization of abnormal (eg, expanded) alleles egr2 (early growth response 2) (eg, charcot-marie-tooth), full gene sequence fkrp (fukutin related protein) (eg, congenital muscular dystrophy type 1c [mdc1c], limb-girdle muscular dystrophy [lgmd] type 2i), full gene sequence foxg1 (forkhead box g1) (eg, rett syndrome), full gene sequence fshmd1a (facioscapulohumeral muscular dystrophy 1a) (eg, facioscapulohumeral muscular dystrophy), evaluation to detect abnormal (eg, deleted) alleles fshmd1a (facioscapulohumeral muscular dystrophy 1a) (eg, facioscapulohumeral muscular dystrophy), characterization of haplotype(s) (i.e., chromosome 4a and 4b haplotypes) hbb (hemoglobin, beta, beta-globin) (eg, thalassemia), full gene sequence kit (c-kit) (v-kit hardy-zuckerman 4 feline sarcoma viral oncogene homolog) (eg, gist, acute myeloid leukemia, melanoma), targeted gene analysis (eg, exons 8, 11, 13, 17, 18) litaf (lipopolysaccharide-induced tnf factor) (eg, charcot-marie-tooth), full gene sequence mefv (mediterranean fever) (eg, familial mediterranean fever), full gene sequence nras (neuroblastoma ras viral oncogene homolog) (eg, colorectal carcinoma), exon 1 and exon 2 sequences pdgfra (platelet-derived growth factor receptor alpha polypeptide) (eg, gastrointestinal stromal tumor), targeted sequence analysis (eg, exons 12, 18) ret (ret proto-oncogene) (eg, multiple endocrine neoplasia, type 2b and familial medullary thyroid carcinoma), common variants (eg, m918t, 2647_2648delinstt, a883f) sdhd (succinate dehydrogenase complex, subunit d, integral membrane protein) (eg, hereditary paraganglioma), full gene sequence vhl (von hippel-lindau tumor suppressor) (eg, von hippel-lindau familial cancer syndrome), full gene sequence vwf (von willebrand factor) (eg, von willebrand disease type 1c), targeted sequence analysis (eg, exons 26, 27, 37) A copy of the clinical notes is required.
81520 Oncology (breast), mrna gene expression profiling by hybrid capture of 58 genes (50 content and 8 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a recurrence risk score A copy of the clinical notes is required.
81521 Oncology (breast), mrna, microarray gene expression profiling of 70 content genes and 465 housekeeping genes, utilizing fresh frozen or formalin-fixed paraffin-embedded tissue, algorithm reported as index related to risk of distant metastasis A copy of the clinical notes is required.
81541 Oncology (prostate), mrna gene expression profiling by real-time rt-pcr of 46 genes (31 content and 15 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a disease-specific mortality risk score A copy of the clinical notes is required.
83006 Growth stimulation expressed gene 2 (st2, interleukin 1 receptor like-1) A copy of the clinical notes is required.
84112 Evaluation of cervicovaginal fluid for specific amniotic fluid protein(s) (eg, placental alpha microglobulin-1 [PAMG-1], placental protein 12 [PP12], alpha-fetoprotein), qualitative, each specimen A copy of the clinical notes is required.
84181 Protein; Western Blot, with interpretation and report, blood or other body fluid A copy of the clinical notes and invoice is required.
87483  Infectious agent detection by nucleic acid (DNA or RNA); central nervous system pathogen (eg, Neisseria meningitidis, Streptococcus pneumoniae, Listeria, Haemophilus influenzae, E. coli, Streptococcus agalactiae, enterovirus, human parechovirus, herpes simplex virus type 1 and 2, human herpesvirus 6, cytomegalovirus, varicella zoster virus, Cryptococcus), includes multiplex reverse transcription, when performed, and multiplex amplified probe technique, multiple types or subtypes, 12-25 targets  A copy of the clinical notes is required.
88749 Unlisted in vivo (eg transcutaneous) laboratory service A copy of the pathology report is required.
92618 Evaluation for prescription of non-speech-generating augmentative and alternative communication device, face-to-face with the patient; each additional 30 minutes (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
93998 Unlisted noninvasive vascular diagnostic study A copy of the clinical notes is required.
G0416 Surgical pathology, gross and microscopic examination for prostate needle saturation biopsy sampling, 1-20 specimens A copy of the clinical notes is required.
G0452 Molecular pathology procedure; physician interpretation and report A copy of the clinical notes is required.
G0659

Drug test(s), definitive, utilizing drug identification methods able to identify individual drugs and distinguish between structural isomers (but not necessarily stereoisomers), including but not limited to gc/ms (any type, single or tandem) and lc/ms (any type, single or tandem), excluding immunoassays (eg, ia, eia, elisa, emit, fpia) and enzymatic methods (eg, alcohol dehydrogenase), performed without method or drug-specific calibration, without matrix-matched quality control material, or without use of stable isotope or other universally recognized internal standard(s) for each drug, drug metabolite or drug class per specimen; qualitative or quantitative, all sources, includes specimen validity testing, per day, any number of drug classes

A copy of the clinical notes is required.
G6035 Gold A copy of the clinical notes is required.

 

Services Billed with Specific Modifier Codes

(NOTE: A copy of the operative report is required)

Modifier Code Code Description Provider Documentation
21 Prolonged E/M services A copy of the clinical notes is required.
22 Unusual procedural services A copy of the clinical notes is required.
62 Two surgeons A copy of the clinical notes is required.
78 Return to the operating room for a related procedure during the postoperative period A copy of the clinical notes is required.
79 Unrelated procedure or service by the same physician during the postoperative period A copy of the clinical notes is required.

 

Surgery
Code Code Description Provider Documentation
0377T Anoscopy with directed submucosal injection of bulking agent for fecal incontinence A copy of the clinical notes is required.
0438T Transperineal placement of biodegradable material, peri-prostatic (via needle), single or multiple, includes image guidance A copy of the diagnostic/imaging report is required.
0523T Intraprocedural coronary fractional flow reserve (FFR) with 3d functional mapping of color-coded FFR values for the coronary tree, derived from coronary angiogram data, for real-time review and interpretation of possible atherosclerotic stenosis(es) intervention (list separately in addition to code for primary procedure) A copy of the diagnostic/imaging report is required.
15271 Application of skin substitute graft to trunk, arms, legs, total wound surface area up to 100 sq cm; first 25 sq cm or less wound surface area A copy of the clinical notes is required.
15272 Application of skin substitute graft to trunk, arms, legs, total wound surface area up to 100 sq cm; each additional 25 sq cm wound surface area, or part thereof (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
15273 Application of skin substitute graft to trunk, arms, legs, total wound surface area greater than or equal to 100 sq cm; first 100 sq cm wound surface area, or 1% of body area of infants and children A copy of the clinical notes is required.
15274 Application of skin substitute graft to trunk, arms, legs, total wound surface area greater than or equal to 100 sq cm; each additional 100 sq cm wound surface area, or part thereof, or each additional 1% of body area of infants and children, or part thereof (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
15275 Application of skin substitute graft to face, scalp, eyelids, mouth, neck, ears, orbits, genitalia, hands, feet, and/or multiple digits, total wound surface area up to 100 sq cm; first 25 sq cm or less wound surface area A copy of the clinical notes is required.
15276 Application of skin substitute graft to face, scalp, eyelids, mouth, neck, ears, orbits, genitalia, hands, feet, and/or multiple digits, total wound surface area up to 100 sq cm; each additional 25 sq cm wound surface area, or part thereof (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
15277 Application of skin substitute graft to face, scalp, eyelids, mouth, neck, ears, orbits, genitalia, hands, feet, and/or multiple digits, total wound surface area greater than or equal to 100 sq cm; first 100 sq cm wound surface area, or 1% of body area of infants and children A copy of the clinical notes is required.
15278 Application of skin substitute graft to face, scalp, eyelids, mouth, neck, ears, orbits, genitalia, hands, feet, and/or multiple digits, total wound surface area greater than or equal to 100 sq cm; each additional 100 sq cm wound surface area, or part thereof, or each additional 1% of body area of infants and children, or part thereof (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
15777 Implantation of biologic implant (e.g., acellular dermal matrix) for soft tissue reinforcement (e.g., breast, trunk) (List separately in addition to code for primary procedure)
27415 Osteochondral allograft, knee, open A copy of the clinical notes is required.
27416 Osteochondral autograft(s), knee, open (eg, mosaicplasty) (includes harvesting of autograft[s]) A copy of the clinical notes is required.
28446 Open osteochondral autograft, talus (includes obtaining graft[s]) A copy of the clinical notes is required.
29867 Arthroscopy, knee, surgical; osteochondral allograft (eg, mosaicplasty) A copy of the clinical notes is required.
32672 Thoracoscopy, surgical; with resection-plication for emphysematous lung (bullous or non-bullous) for lung volume reduction (LVRS), unilateral includes any pleural procedure, when performed  A copy of the clinical notes is required.
33418 Transcatheter mitral valve repair, percutaneous approach, including transseptal puncture when performed; initial prosthesis A copy of the clinical notes is required.
33419 Transcatheter mitral valve repair, percutaneous approach, including transseptal puncture when performed; additional prosthesis(es) during same session (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
33927 Implantation of a total replacement heart system (artificial heart) with recipient cardiectomy A copy of the clinical notes is required.
33928 Removal and replacement of total replacement heart system (artificial heart) A copy of the clinical notes is required.
33929 Removal of a total replacement heart system (artificial heart) for heart transplantation (list separately in addition to code for primary procedure) A copy of the clinical notes is required.
41512 Tongue Base Suspension Copies of the operative report, history and physical report, diagnostic imaging report, and sleep study report are required.
41530 Submucosal Ablation of the Tongue Base Copies of the operative report, history and physical report, diagnostic/imaging report and sleep study report are required.
41826 Excision of lesion or tumor, dentoalveolar structures; with simple repair A copy of the operative report is required.
41827 Excision of lesion or tumor; dentoalveolar structures; with complex repair A copy of the operative report is required.
41850 Destruction of lesion (except excision), dentoalveolar structures A copy of the operative report is required.
55706 Biopsies, prostate, needle, transperineal, stereotactic template guided saturation sampling, including imaging guidance A copy of the operative report is required.
64568 Incision for implantation of cranial nerve (eg, vagnus nerve) neurostimulator electrode array and pulse generator Provide history and physical.
64569 Revision or replacement of cranial nerve (eg, vagnus nerve) neurostimulator electrode array, including connection to existing pulse generator Provide history and physical.
64570 Removal of cranial nerve (eg, vagnus nerve) neurostimulator electrode array and pulse generator Provide history and physical.
66179 Aqueous shunt to extraocular equatorial plate reservoir, external approach; without graft A copy of the clinical notes is required.
66184 Revision of aqueous shunt to extraocular equatorial plate reservoir; without graft A copy of the clinical notes is required.
0191T Insertion of anterior segment aqueous drainage device, without extraocular reservoir, internal approach A copy of the clinical notes is required.
0192T Insertion of anterior segment aqueous drainage device, without extraocular reservoir, external approach A copy of the clinical notes is required.
0253T Insertion of anterior segment aqueous drainage device, without extraocular reservoir, internal approach, in to the suprachoroidal space Provide clinical notes.
0256T Implantation of catheter-delivered prosthetic aortic heart valve; endovascular approach and open thoracic approach Provide operative report.
0257T Implantation of catheter-delivered prosthetic aortic heart valve; endovascular approach and open thoracic approach Provide operative report.
0258T Transthoracic cardiac exposure (eg, sternotomy, thoracotomy, subxiphoid) for catheter-delivered aortic valve replacement; without cardiopulmonary bypass and with cardiopulmonary bypass Provide operative report.
0259T Transthoracic cardiac exposure (eg, sternotomy, thoracotomy, subxiphoid) for catheter-delivered aortic valve replacement; without cardiopulmonary bypass and with cardiopulmonary bypass Provide operative report.
0331T Myocardial sympathetic innervation imaging, planar qualitative and quantitive assessment Provide clinical notes and diagnostic/imaging report.
0332T Myocardial sympathetic innervation imaging, planar qualitative and quantitative assessment; with tomographic SPECT Provide clinical notes and diagnostic/imaging report.
0334T Sacroiliac joint stabilization for arthrodesis, percutaneous or minimally invasive (indirect visualization), includes obtaining and applying autograft or allograft (structural or morselized), when performed, includes image when performed (eg. Ct or fluoroscopic) Provide clinical notes.
0343T Transcatheter mitral valve repair percutaneous approach including transseptal puncture when performed; initial prosthesis Provide clinical notes.
0344T Transcatheter mitral valve repair percutaneous approach including transseptal puncture when performed; additional prosthesis (es) during same session (list separately in addition to code for primary procedure) Provide clinical notes.
0345T Transcatheter mitral valve repair percutaneous approach via the coronary sinus Provide clinical notes.
0483T Transcatheter mitral valve implantation/replacement (tmvi) with prosthetic valve; Percutaneous approach, including transseptal puncture, when performed Provide clinical notes.
0484T Transcatheter mitral valve implantation/replacement (tmvi) with prosthetic valve; Transthoracic exposure (eg, thoracotomy, transapical) Provide clinical notes.
G0440 Application of tissue cultured allogeneic skin substitute or dermal substitute; for use on lower limb, includes the site preparation and debridement if performed; first 25 sq cm or less Provide clinical notes.
G0441 Application of tissue cultured allogeneic skin substitute or dermal substitute; for use on lower limb, includes the site preparation and debridement if performed; each additional 25 sq cm. Provide clinical notes.
Q4176 Neopatch, per square centimeter Provide clinical notes.
Q4177 Floweramnioflo, 0.1 cc     Provide clinical notes.
Q4178 Floweramniopatch, per square centimeter Provide clinical notes.
Q4179 Flowerderm, per square centimeter Provide clinical notes.
Q4180 Revita, per square centimeter Provide clinical notes.
Q4181  Amnio wound, per square centimeter Provide clinical notes.
Q4182 Transcyte, per square centimeter Provide clinical notes.

 

By Report Procedures
Complex Wound Repairs and Complicated Incisions
Cosmetic procedures, see Cosmetic Procedures - Claim Documentation Requirements
Debridement
Oral Surgery and Interdental Fixation Services - Claim Documentation Requirements

 

In addition, HMSA may require submission of clinical records before or after payment of claims for the purpose of investigating potential fraudulent, abusive or other inappropriate billing practices, but only as long as there is a reasonable basis for believing such investigation is warranted.

 

 

 

MM: 2019

 

 

 

To view the previous version of this document, see Services Requiring Additional Documentation - OBSOLETE2

 

Latest Revision:05/01/2019
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