Commercial | Medicare | QUEST Integration
Hawaii Medical Service Association (HMSA) partners with Avalon Healthcare Solutions to streamline management of genetic testing services. Avalon Healthcare Solutions and HMSA review genetic testing medical policies and services using the HRS-432 – Hawaii State Statute for Medical Necessity.
For full medical necessity criteria, refer to Genetic Testing Medical Policies: Avalon.
For a comprehensive listing of non-covered genetic testing codes, refer to Codes That Do Not Meet Payment Determination Criteria – Table I.
The tables below contain all the service codes which Avalon Healthcare manages on behalf of HMSA. The different effective dates on this page represent when precertification was added to the codes listed below each date. All codes on this page should be considered when determining if a genetic test requires precertification.
All lines of business – commercial, Medicare, and QUEST Integration – are subject to Avalon Healthcare precertification review. Providers may submit precertification requests and/or questions 24/7 via Avalon’s:
Prior Authorization System (PAS) Portal
Phone: 1-844-227-5769
Fax: 1-813-751-3760
Codes Requiring Precertification Effective 3/1/2025
| Code | Description | Relevant Medical Policy |
|---|---|---|
| 0080U | Oncology (lung), mass spectrometric analysis of galectin-3-binding protein and scavenger receptor cysteine-rich type 1 protein M130, with five clinical risk factors (age, smoking status, nodule diameter, nodule-spiculation status and nodule location), utilizing plasma, algorithm reported as a categorical probability of malignancy | Laboratory Procedures Reimbursement Policy |
| 0222U | Red cell antigen (RH blood group) genotyping (RHD and RHCE), gene analysis, next-generation sequencing, RH proximal promoter, exons 1-10, portions of introns 2-3 | Laboratory Procedures Reimbursement Policy |
| 0359U | Oncology (prostate cancer), analysis of all prostate-specific antigen (PSA) structural isoforms by phase separation and immunoassay, plasma, algorithm reports risk of cancer | Laboratory Procedures Reimbursement Policy |
| 0439U | Cardiology (coronary heart disease [CHD]), DNA, analysis of 5 single-nucleotide polymorphisms (SNPs) (rs11716050 [LOC105376934], rs6560711 [WDR37], rs3735222 [SCIN/LOC107986769], rs6820447 [intergenic], and rs9638144 [ESYT2]) and 3 DNA methylation markers (cg00300879 [transcription start site {TSS200} of CNKSR1], cg09552548 [intergenic], and cg14789911 [body of SPATC1L]), qPCR and digital PCR, whole blood, algorithm reported as a 4-tiered risk score for a 3-year risk of symptomatic CHD | Laboratory Procedures Reimbursement Policy |
| 0440U | Cardiology (coronary heart disease [CHD]), DNA, analysis of 10 single-nucleotide polymorphisms (SNPs) (rs710987 [LINC010019], rs1333048 [CDKN2B-AS1], rs12129789 [KCND3], rs942317 [KTN1-AS1], rs1441433 [PPP3CA], rs2869675 [PREX1], rs4639796 [ZBTB41], rs4376434 [LINC00972], rs12714414 [TMEM18], and rs7585056 [TMEM18]) and 6 DNA methylation markers (cg03725309 [SARS1], cg12586707 [CXCL1], cg04988978 [MPO], cg17901584 [DHCR24-DT], cg21161138 [AHRR], and cg12655112 [EHD4]), qPCR and digital PCR, whole blood, algorithm reported as detected or not detected for CHD | Laboratory Procedures Reimbursement Policy |
| 0444U | Oncology (solid organ neoplasia), targeted genomic sequence analysis panel of 361 genes, interrogation for gene fusions, translocations, or other rearrangements, using DNA from formalin-fixed paraffin-embedded (FFPE) tumor tissue, report of clinically significant variant(s) | Laboratory Procedures Reimbursement Policy |
| 0448U | Oncology (lung and colon cancer), DNA, qualitative, next-generation sequencing detection of single-nucleotide variants and deletions in EGFR and KRAS genes, formalin-fixed paraffin-embedded (FFPE) solid tumor samples, reported as presence or absence of targeted mutation(s), with recommended therapeutic options | Testing for Targeted Therapy of Non-Small-Cell Lung Cancer |
| 0449U | Carrier screening for severe inherited conditions (eg, cystic fibrosis, spinal muscular atrophy, beta hemoglobinopathies [including sickle cell disease], alpha thalassemia), regardless of race or self-identified ancestry, genomic sequence analysis panel, must include analysis of 5 genes (CFTR, SMN1, HBB, HBA1, HBA2) | Laboratory Procedures Reimbursement Policy |
| 0460U | Oncology, whole blood or buccal, DNA single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, with variant analysis and reported phenotypes | Laboratory Procedures Reimbursement Policy |
| 0461U | Oncology, pharmacogenomic analysis of single-nucleotide polymorphism (SNP) genotyping by real-time PCR of 24 genes, whole blood or buccal swab, with variant analysis, including impacted gene-drug interactions and reported phenotypes | Laboratory Procedures Reimbursement Policy |
| 0465U | Oncology (urothelial carcinoma), DNA, quantitative methylation-specific PCR of 2 genes (ONECUT2, VIM), algorithmic analysis reported as positive or negative | Laboratory Procedures Reimbursement Policy |
| 0469U | Rare diseases (constitutional/heritable disorders), whole genome sequence analysis for chromosomal abnormalities, copy number variants, duplications/deletions, inversions, unbalanced translocations, regions of homozygosity (ROH), inheritance pattern that indicate uniparental disomy (UPD), and aneuploidy, fetal sample (amniotic fluid, chorionic villus sample, or products of conception), identification and categorization of genetic variants, diagnostic report of fetal results based on phenotype with maternal sample and paternal sample, if performed, as comparators and/or maternal cell contamination | Laboratory Procedures Reimbursement Policy |
| 0470U | Oncology (oropharyngeal), detection of minimal residual disease by next-generation sequencing (NGS) based quantitative evaluation of 8 DNA targets, cell-free HPV 16 and 18 DNA from plasma | Laboratory Procedures Reimbursement Policy |
| 0471U | Oncology (colorectal cancer), qualitative real-time PCR of 35 variants of KRAS and NRAS genes (exons 2, 3, 4), formalin-fixed paraffin-embedded (FFPE), predictive, identification of detected mutations | Laboratory Procedures Reimbursement Policy |
| 0473U | Oncology (solid tumor), next-generation sequencing (NGS) of DNA from formalin-fixed paraffin-embedded (FFPE) tissue with comparative sequence analysis from a matched normal specimen (blood or saliva), 648 genes, interrogation for sequence variants, insertion and deletion alterations, copy number variants, rearrangements, microsatellite instability, and tumor-mutation burden | Laboratory Procedures Reimbursement Policy |
| 0474U | Hereditary pan-cancer (eg, hereditary sarcomas, hereditary endocrine tumors, hereditary neuroendocrine tumors, hereditary cutaneous melanoma), genomic sequence analysis panel of 88 genes with 20 duplications/deletions using next-generation sequencing (NGS), Sanger sequencing, blood or saliva, reported as positive or negative for germline variants, each gene | Laboratory Procedures Reimbursement Policy |
| 0475U | Hereditary prostate cancer-related disorders, genomic sequence analysis panel using next-generation sequencing (NGS), Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridization (CGH), evaluation of 23 genes and duplications/deletions when indicated, pathologic mutations reported with a genetic risk score for prostate cancer | Laboratory Procedures Reimbursement Policy |
| 0478U | Oncology (solid tumor), cell-free circulating DNA, targeted genomic sequence analysis panel of 84 genes, interrogation for sequence variants, aneuploidy-corrected gene copy number amplifications and losses, gene rearrangements, and microsatellite instability | Testing for Targeted Therapy of Non-Small-Cell Lung Cancer |
| 0481U | IDH1 (isocitrate dehydrogenase 1 [NADP+]), IDH2 (isocitrate dehydrogenase 2 [NADP+]), and TERT (telomerase reverse transcriptase) promoter (eg, central nervous system [CNS] tumors), next-generation sequencing (single-nucleotide variants [SNV], deletions, and insertions) | Molecular Analysis for Gliomas |
| 0487U | Oncology (solid tumor), cell-free circulating DNA, targeted genomic sequence analysis panel of 84 genes, interrogation for sequence variants, aneuploidy-corrected gene copy number amplifications and losses, gene rearrangements, and microsatellite instability | Microsatellite Instability and Tumor Mutational Burden Testing |
| 0488U | Obstetrics (fetal antigen noninvasive prenatal test), cell-free DNA sequence analysis for detection of fetal presence or absence of 1 or more of the Rh, C, c, D, E, Duffy (Fya), or Kell (K) antigen in alloimmunized pregnancies, reported as selected antigen(s) detected or not detected | Laboratory Procedures Reimbursement Policy |
| 0489U | Obstetrics (single-gene noninvasive prenatal test), cell-free DNA sequence analysis of 1 or more targets (eg, CFTR, SMN1, HBB, HBA1, HBA2) to identify paternally inherited pathogenic variants, and relative mutation-dosage analysis based on molecular counts to determine fetal inheritance of maternal mutation, algorithm reported as a fetal risk score for the condition (eg, cystic fibrosis, spinal muscular atrophy, beta hemoglobinopathies [including sickle cell disease], alpha thalassemia) | Laboratory Procedures Reimbursement Policy |
| 0493U | Transplantation medicine, quantification of donor-derived cell-free DNA (cfDNA) using next-generation sequencing, plasma, reported as percentage of donor-derived cell-free DNA | Transplant Rejection Testing |
| 0494U | Red blood cell antigen (fetal RhD gene analysis), next-generation sequencing of circulating cell-free DNA (cfDNA) of blood in pregnant individuals known to be RhD negative, reported as positive or negative | Prenatal Screening (Genetic) |
| 0508U | Gastroenterology (Barrett's esophagus), esophageal cells, DNA methylation analysis by next-generation sequencing of at least 89 differentially methylated genomic regions, algorithm reported as likelihood for Barrett's esophagus | Transplant Rejection Testing |
| 0509U | Transplantation medicine, quantification of donor-derived cell-free DNA using up to 12 single-nucleotide polymorphisms (SNPs) previously identified, plasma, reported as percentage of donor-derived cell-free DNA with risk for active rejection | Transplant Rejection Testing |
| 81381 | HLA Class I typing, high resolution (ie, alleles or allele groups); one allele or allele group (eg, B*57:01P), each | Laboratory Procedures Reimbursement Policy |
| 81457 | Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis, microsatellite instability | Laboratory Procedures Reimbursement Policy |
| 81458 | Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis, copy number variants and microsatellite instability | Laboratory Procedures Reimbursement Policy |
| 81459 | Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis or combined DNA and RNA analysis, copy number variants, microsatellite instability, tumor mutation burden, and rearrangements | Laboratory Procedures Reimbursement Policy |
| 81462 | Solid organ neoplasm, genomic sequence analysis panel, cell-free nucleic acid (eg, plasma), interrogation for sequence variants; DNA analysis or combined DNA and RNA analysis, copy number variants and rearrangements | Laboratory Procedures Reimbursement Policy |
| 81463 | Solid organ neoplasm, genomic sequence analysis panel, cell-free nucleic acid (eg, plasma), interrogation for sequence variants; DNA analysis, copy number variants, and microsatellite instability | Laboratory Procedures Reimbursement Policy |
| 81464 | Solid organ neoplasm, genomic sequence analysis panel, cell-free nucleic acid (eg, plasma), interrogation for sequence variants; DNA analysis or combined DNA and RNA analysis, copy number variants, microsatellite instability, tumor mutation burden, and rearrangements | Laboratory Procedures Reimbursement Policy |
| 88267 | Chromosome analysis, amniotic fluid or chorionic villus, count 15 cells, 1 karyotype, with banding | Laboratory Procedures Reimbursement Policy |
| S3854 | Gene expression profiling panel for use in the management of breast cancer treatment | Laboratory Procedures Reimbursement Policy |
Codes Requiring Precertification Effective 6/1/2023
*Indicates new precertification requirement, effective upon implementation of GTM program.
| Code | Description | Relevant Medical Policy/ies |
|---|---|---|
| 81120* | IDH1 (isocitrate dehydrogenase 1 [NADP+], soluble) (eg, glioma), common variants (eg, R132H, R132C) |
Genetic Testing for Acute Myeloid Leukemia |
| 81121* | IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondrial) (eg, glioma), common variants (eg, R140W, R172M) |
Genetic Testing for Acute Myeloid Leukemia |
| 81161* | DMD (dystrophin) (eg, Duchenne/Becker muscular dystrophy) deletion analysis, and duplication analysis, if performed |
General Genetic Testing, Germline Disorders Genetic Testing for Duchenne, Becker, Facioscapulohumeral, and Limb-Girdle Muscular Dystrophies |
| 81162 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (ie, detection of large gene rearrangements) | |
| 81163 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | |
| 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) | |
| 81165 | BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | BRCA |
| 81166 | BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) | BRCA |
| 81167 | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements) | |
| 81168* | CCND1/IGH (t(11;14)) (eg, mantle cell lymphoma) translocation analysis, major breakpoint, qualitative and quantitative, if performed | General Genetic Testing, Somatic Disorders |
| 81170* | ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) (eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain | BCR-ABL 1 Testing |
| 81171* | AFF2 (AF4/FMR2 family, member 2 [FMR2]) (eg, fragile X mental retardation 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | Prenatal Screening (Genetic) |
| 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) | Prenatal Screening (Genetic) |
| 81173* | AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation) gene analysis; full gene sequence | General Genetic Testing, Germline Disorders |
| 81175* | ASXL1 (additional sex combs like 1, transcriptional regulator) (eg, myelodysplastic syndrome, myeloproliferative neoplasms, chronic myelomonocytic leukemia), gene analysis; full gene sequence |
General Genetic Testing, Somatic Disorders |
| 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) |
General Genetic Testing, Somatic Disorders |
| 81177* | ATN1 (atrophin 1) (eg, dentatorubral-pallidoluysian atrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81178* | ATXN1 (ataxin 1) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81179* | ATXN2 (ataxin 2) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81180* | ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81181* | ATXN7 (ataxin 7) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81182* | ATXN8OS (ATXN8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81183* | ATXN10 (ataxin 10) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81184* | CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | Genetic Testing for Neurodegenerative Disorders |
| 81185* | CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; full gene sequence | Genetic Testing for Neurodegenerative Disorders |
| 81187* | CNBP (CCHC-type zinc finger nucleic acid binding protein) (eg, myotonic dystrophy type 2) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | General Genetic Testing, Germline Disorders |
| 81188* | CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | General Genetic Testing, Germline Disorders |
| 81189* | CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; full gene sequence | General Genetic Testing, Germline Disorders |
| 81191* | NTRK1 (neurotrophic receptor tyrosine kinase 1) (eg, solid tumors) translocation analysis | General Genetic Testing, Somatic Disorders |
| 81192* | NTRK2 (neurotrophic receptor tyrosine kinase 2) (eg, solid tumors) translocation analysis | General Genetic Testing, Somatic Disorders |
| 81193* | NTRK3 (neurotrophic receptor tyrosine kinase 3) (eg, solid tumors) translocation analysis | General Genetic Testing, Somatic Disorders |
| 81194* | NTRK (neurotrophic receptor tyrosine kinase 1, 2, and 3) (eg, solid tumors) translocation analysis | |
| 81200* | ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X) | |
| 81201 | APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; full gene sequence | |
| 81202 | APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; known familial variants | |
| 81203 | APC (adenomatous polyposis coli) (eg, familial adenomatosis polyposis [FAP], attenuated FAP) gene analysis; duplication/deletion variants | |
| 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) | General Genetic Testing, Germline Disorders |
| 81205* | BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) | Pre-Implantation Genetic Testing |
| 81206* | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major breakpoint, qualitative or quantitative | BCR-ABL 1 Testing |
| 81207* | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; minor breakpoint, qualitative or quantitative | BCR-ABL 1 Testing |
| 81208* | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative | BCR-ABL 1 Testing |
| 81209* | BLM (Bloom syndrome, RecQ helicase-like) (eg, Bloom syndrome) gene analysis, 2281del6ins7 variant | |
| 81210 | BRAF (B-Raf proto-oncogene, serine/threonine kinase) (eg, colon cancer, melanoma), gene analysis, V600 variant(s) |
Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma KRAS NRAS BRAF Mutation Analysis in Colorectal Cancer Molecular Analysis for Gliomas |
| 81212 | BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants | |
| 81215 | BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant | |
| 81216 | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | |
| 81217 | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant | |
| 81218* | CEBPA (CCAAT/enhancer binding protein [C/EBP], alpha) (eg, acute myeloid leukemia), gene analysis, full gene sequence | Genetic Testing for Acute Myeloid Leukemia |
| 81219* | CALR (calreticulin) (eg, myeloproliferative disorders), gene analysis, common variants in exon 9 | Mutation Analysis in Myeloproliferative Neoplasms |
| 81220* | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines) |
Genetic Testing for Cystic Fibrosis Pre-Implantation Genetic Testing |
| 81221 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants | |
| 81222 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants | |
| 81223 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence | |
| 81224 | CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; intron 8 poly-T analysis (eg, male infertility) | |
| 81225* | CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *8, *17) | |
| 81226* | CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) | |
| 81227* | CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *5, *6) | |
| 81228 | Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number variants, comparative genomic hybridization [CGH] microarray analysis | |
| 81229 | Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and single nucleotide polymorphism (SNP) variants, comparative genomic hybridization (CGH) microarray analysis | |
| 81231* | CYP3A5 (cytochrome P450 family 3 subfamily A member 5) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *7) | |
| 81232* | DPYD (dihydropyrimidine dehydrogenase) (eg, 5-fluorouracil/5-FU and capecitabine drug metabolism), gene analysis, common variant(s) (eg, *2A, *4, *5, *6) | |
| 81233* | BTK (Bruton's tyrosine kinase) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, C481S, C481R, C481F) | |
| 81234* | DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; evaluation to detect abnormal (expanded) alleles | General Genetic Testing, Germline Disorders |
| 81235* | EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis, common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q) | |
| 81236* | EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) (eg, myelodysplastic syndrome, myeloproliferative neoplasms) gene analysis, full gene sequence |
General Genetic Testing, Germline Disorders |
| 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) |
General Genetic Testing, Germline Disorders |
| 81238* | F9 (coagulation factor IX) (eg, hemophilia B), full gene sequence | General Genetic Testing, Germline Disorders |
| 81239* | DMPK (DM1 protein kinase) (eg, myotonic dystrophy type 1) gene analysis; characterization of alleles (eg, expanded size) | General Genetic Testing, Germline Disorders |
| 81240 | F2 (prothrombin, coagulation factor II) (eg, hereditary hypercoagulability) gene analysis, 20210G>A variant | |
| 81241 | F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden variant | |
| 81242* | FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T) | |
| 81243 | FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; evaluation to detect abnormal (eg, expanded) alleles |
Genetic Testing for Neurodegenerative Disorders |
| 81244 | FMR1 (fragile X mental retardation 1) (eg, fragile X mental retardation) gene analysis; characterization of alleles (eg, expanded size and promoter methylation status) |
Genetic Testing for FMR1 Mutations |
| 81245* | FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; internal tandem duplication (ITD) variants (ie, exons 14, 15) | Genetic Testing for Acute Myeloid Leukemia |
| 81246* | FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia), gene analysis; tyrosine kinase domain (TKD) variants (eg, D835, I836) | Genetic Testing for Acute Myeloid Leukemia |
| 81247* | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; common variant(s) (eg, A, A-) | |
| 81249* | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; full gene sequence | General Genetic Testing, Germline Disorders |
| 81250* | G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X) | Pre-Implantation Genetic Testing |
| 81251 | GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A) | |
| 81252* | GJB2 (gap junction protein, beta 2, 26kDa, connexin 26) (eg, nonsyndromic hearing loss) gene analysis; full gene sequence |
General Genetic Testing, Germline Disorders |
| 81255 | HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) | |
| 81256 | HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D) | |
| 81257 | HBA1/HBA2 (alpha globin 1 and alpha globin 2) (eg, alpha thalassemia, Hb Bart hydrops fetalis syndrome, HbH disease), gene analysis; common deletions or variant (eg, Southeast Asian, Thai, Filipino, Mediterranean, alpha3.7, alpha4.2, alpha20.5, Constant Spring) | |
| 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 | |
| 81260* | IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T>C, R696P) | |
| 81265* | Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing, or maternal cell contamination of fetal cells) | |
| 81266* | Comparative analysis using Short Tandem Repeat (STR) markers; each additional specimen (eg, additional cord blood donor, additional fetal samples from different cultures, or additional zygosity in multiple birth pregnancies) (List separately in addition to code for primary procedure) | General Genetic Testing, Somatic Disorders |
| 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 | |
| 81270* | JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant | Mutation Analysis in Myeloproliferative Neoplasms |
| 81271* | HTT (huntingtin) (eg, Huntington disease) gene analysis; evaluation to detect abnormal (eg, expanded) alleles | |
| 81272* | KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, gastrointestinal stromal tumor [GIST], acute myeloid leukemia, melanoma), gene analysis, targeted sequence analysis (eg, exons 8, 11, 13, 17, 18) |
Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 81273* | KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (eg, mastocytosis), gene analysis, D816 variant(s) |
Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 81274* | HTT (huntingtin) (eg, Huntington disease) gene analysis; characterization of alleles (eg, expanded size) | |
| 81275* | KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; variants in exon 2 (eg, codons 12 and 13) | |
| 81276* | KRAS (Kirsten rat sarcoma viral oncogene homolog) (eg, carcinoma) gene analysis; additional variant(s) (eg, codon 61, codon 146) | |
| 81277* | Cytogenomic neoplasia (genome-wide) microarray analysis, interrogation of genomic regions for copy number and loss-of-heterozygosity variants for chromosomal abnormalities | General Genetic Testing, Somatic Disorders |
| 81278* | IGH@/BCL2 (t(14;18)) (eg, follicular lymphoma) translocation analysis, major breakpoint region (MBR) and minor cluster region (mcr) breakpoints, qualitative or quantitative | General Genetic Testing, Somatic Disorders |
| 81279* | JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) targeted sequence analysis (eg, exons 12 and 13) | Mutation Analysis in Myeloproliferative Neoplasms |
| 81283* | IFNL3 (interferon, lambda 3) (eg, drug response), gene analysis, rs12979860 variant | |
| 81284* | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; evaluation to detect abnormal (expanded) alleles | |
| 81285* | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; characterization of alleles (eg, expanded size) | |
| 81286* | FXN (frataxin) (eg, Friedreich ataxia) gene analysis; full gene sequence | |
| 81287 | MGMT (O-6-methylguanine-DNA methyltransferase) (eg, glioblastoma multiforme) promoter methylation analysis | Molecular Analysis for Gliomas |
| 81288 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; promoter methylation analysis | |
| 81290* | MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) | |
| 81292 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | |
| 81293 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants |
Genetic Testing for Neurofibromatosis and Related Disorders Pre-Implantation Genetic Testing |
| 81294 | MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | |
| 81295 | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis |
Genetic Testing for Neurofibromatosis and Related Disorders Pre-Implantation Genetic Testing |
| 81296 | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants | |
| 81297 | MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | |
| 81298 | MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | |
| 81299 | MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants |
Genetic Testing for Neurofibromatosis and Related Disorders Pre-Implantation Genetic Testing |
| 81300 | MSH6 (mutS homolog 6 [E. coli]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | |
| 81301 | Microsatellite instability analysis (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) of markers for mismatch repair deficiency (eg, BAT25, BAT26), includes comparison of neoplastic and normal tissue, if performed |
Genetic Testing for Neurofibromatosis and Related Disorders Microsatellite Instability and Tumor Mutational Burden Testing |
| 81302* | MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full sequence analysis |
Genetic Testing for Rett Syndrome Pre-Implantation Genetic Testing |
| 81304* | MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; duplication/deletion variants | |
| 81305* | MYD88 (myeloid differentiation primary response 88) (eg, Waldenstrom's macroglobulinemia, lymphoplasmacytic leukemia) gene analysis, p.Leu265Pro (L265P) variant | |
| 81306* | NUDT15 (nudix hydrolase 15) (eg, drug metabolism) gene analysis, common variant(s) (eg, *2, *3, *4, *5, *6) | |
| 81307 | PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; full gene sequence | General Genetic Testing, Germline Disorders |
| 81308 | PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; known familial variant | General Genetic Testing, Germline Disorders |
| 81309* | PIK3CA (phosphatidylinositol-4, 5-biphosphate 3-kinase, catalytic subunit alpha) (eg, colorectal and breast cancer) gene analysis, targeted sequence analysis (eg, exons 7, 9, 20) | |
| 81310* | NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, exon 12 variants | |
| 81311* | NRAS (neuroblastoma RAS viral [v-ras] oncogene homolog) (eg, colorectal carcinoma), gene analysis, variants in exon 2 (eg, codons 12 and 13) and exon 3 (eg, codon 61) |
Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 81312* | PABPN1 (poly[A] binding protein nuclear 1) (eg, oculopharyngeal muscular dystrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81314* | PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18) | |
| 81315* | PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; common breakpoints (eg, intron 3 and intron 6), qualitative or quantitative | |
| 81316* | PML/RARalpha, (t(15;17)), (promyelocytic leukemia/retinoic acid receptor alpha) (eg, promyelocytic leukemia) translocation analysis; single breakpoint (eg, intron 3, intron 6 or exon 6), qualitative or quantitative | |
| 81317 | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; full sequence analysis | |
| 81318 | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; known familial variants | |
| 81319 | PMS2 (postmeiotic segregation increased 2 [S. cerevisiae]) (eg, hereditary non-polyposis colorectal cancer, Lynch syndrome) gene analysis; duplication/deletion variants | |
| 81320* | PLCG2 (phospholipase C gamma 2) (eg, chronic lymphocytic leukemia) gene analysis, common variants (eg, R665W, S707F, L845F) | |
| 81321 | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; full sequence analysis | |
| 81322 | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; known familial variant | |
| 81323 | PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome) gene analysis; duplication/deletion variant | |
| 81324* | PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; duplication/deletion analysis |
Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies |
| 81325* | PMP22 (peripheral myelin protein 22) (eg, Charcot-Marie-Tooth, hereditary neuropathy with liability to pressure palsies) gene analysis; full sequence analysis |
Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies |
| 81328* | SLCO1B1 (solute carrier organic anion transporter family, member 1B1) (eg, adverse drug reaction), gene analysis, common variant(s) (eg, *5) | |
| 81329* | SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; dosage/deletion analysis (eg, carrier testing), includes SMN2 (survival of motor neuron 2, centromeric) analysis, if performed |
General Genetic Testing, Germline Disorders |
| 81330* | SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330) | |
| 81331* | SNRPN/UBE3A (small nuclear ribonucleoprotein polypeptide N and ubiquitin protein ligase E3A) (eg, Prader-Willi syndrome and/or Angelman syndrome), methylation analysis | |
| 81333* | TGFBI (transforming growth factor beta-induced) (eg, corneal dystrophy) gene analysis, common variants (eg, R124H, R124C, R124L, R555W, R555Q) | |
| 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) | |
| 81335 | TPMT (thiopurine S-methyltransferase) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3) | |
| 81336* | SMN1 (survival of motor neuron 1, telomeric) (eg, spinal muscular atrophy) gene analysis; full gene sequence | |
| 81338* | MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; common variants (eg, W515A, W515K, W515L, W515R) | |
| 81339* | MPL (MPL proto-oncogene, thrombopoietin receptor) (eg, myeloproliferative disorder) gene analysis; sequence analysis, exon 10 | |
| 81343* | PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81344* | TBP (TATA box binding protein) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | |
| 81345* | TERT (telomerase reverse transcriptase) (eg, thyroid carcinoma, glioblastoma multiforme) gene analysis, targeted sequence analysis (eg, promoter region) | |
| 81346* | TYMS (thymidylate synthetase) (eg, 5-fluorouracil/5-FU drug metabolism), gene analysis, common variant(s) (eg, tandem repeat variant) | |
| 81347* | SF3B1 (splicing factor [3b] subunit B1) (eg, myelodysplastic syndrome/acute myeloid leukemia) gene analysis, common variants (eg, A672T, E622D, L833F, R625C, R625L) |
General Genetic Testing, Somatic Disorders Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 81348* | SRSF2 (serine and arginine-rich splicing factor 2) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (eg, P95H, P95L) | |
| 81349* | Cytogenomic (genome-wide) analysis for constitutional chromosomal abnormalities; interrogation of genomic regions for copy number and loss-of-heterozygosity variants, low-pass sequencing analysis | |
| 81350* | UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, drug metabolism, hereditary unconjugated hyperbilirubinemia [Gilbert syndrome]) gene analysis, common variants (eg, *28, *36, *37) | |
| 81351 | TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; full gene sequence | |
| 81352 | TP53 (tumor protein 53) (eg, Li-Fraumeni syndrome) gene analysis; targeted sequence analysis (eg, 4 oncology) | |
| 81353 | TP53 (tumor protein 53)(eg, Li-Fraumeni syndrome) gene analysis; known familial variant | |
| 81355* | VKORC1 (vitamin K epoxide reductase complex, subunit 1) (eg, warfarin metabolism), gene analysis, common variant(s) (eg, -1639G>A, c.173+1000C>T) | |
| 81357* | U2AF1 (U2 small nuclear RNA auxiliary factor 1) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variants (eg, S34F, S34Y, Q157R, Q157P) | |
| 81360* | ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine-rich 2) (eg, myelodysplastic syndrome, acute myeloid leukemia) gene analysis, common variant(s) (eg, E65fs, E122fs, R448fs) | |
| 81361* | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); common variant(s) (eg, HbS, HbC, HbE) | |
| 81363* | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); duplication/deletion variant(s) | |
| 81364* | HBB (hemoglobin, subunit beta) (eg, sickle cell anemia, beta thalassemia, hemoglobinopathy); full gene sequence | |
| 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) |
General Genetic Testing, Germline Disorders General Genetic Testing, Somatic Disorders Genetic Testing for Duchenne, Becker, Facioscapulohumeral, and Limb-Girdle Muscular Dystrophies Genetic Testing for Lactase Insufficiency Genetic Testing for Mental Health Disorders |
| 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) |
General Genetic Testing, Germline Disorders General Genetic Testing, Somatic Disorders Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma Genetic Testing for Familial Alzheimer Disease Genetic Testing for Familial Hypercholesterolemia Genetic Testing for Hereditary Pancreatitis Genetic Testing for Mental Health Disorders Genetic Testing for Ophthalmologic Conditions Genetic Testing for Polyposis Syndrome Genetic Testing of Mitochondrial Disorders |
| 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]) |
General Genetic Testing, Germline Disorders General Genetic Testing, Somatic Disorders Genetic Markers for Assessing Risk of Cardiovascular Disease |
| 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) |
General Genetic Testing, Germline Disorders General Genetic Testing, Somatic Disorders Genetic Markers for Assessing Risk of Cardiovascular Disease Genetic Testing for Acute Myeloid Leukemia Genetic Testing for Mental Health Disorders Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies Genetic Testing of Mitochondrial Disorders |
| 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) |
General Genetic Testing, Germline Disorders Genetic Markers for Assessing Risk of Cardiovascular Disease Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies Genetic Testing for Duchenne, Becker, Facioscapulohumeral, and Limb-Girdle Muscular Dystrophies Genetic Testing for Familial Cutaneous Malignant Melanoma Genetic Testing for Germline Mutations of the RET Proto-Oncogene Genetic Testing for Hereditary Pancreatitis Genetic Testing for Inherited Cardiomyopathies and Channelopathies Genetic Testing for Mental Health Disorders Genetic Testing for Neurodegenerative Disorders Genetic Testing for Polyposis Syndrome Genetic Testing for Rett Syndrome |
| 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) |
General Genetic Testing, Germline Disorders General Genetic Testing, Somatic Disorders Genetic Markers for Assessing Risk of Cardiovascular Disease Genetic Testing for Acute Myeloid Leukemia Genetic Testing for Connective Tissue Disorders Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies Genetic Testing for Duchenne, Becker, Facioscapulohumeral, and Limb-Girdle Muscular Dystrophies Genetic Testing for Familial Alzheimer Disease Genetic Testing for Familial Hypercholesterolemia Genetic Testing for Germline Mutations of the RET Proto-Oncogene Genetic Testing for Hereditary Pancreatitis Genetic Testing for Inherited Cardiomyopathies and Channelopathies Genetic Testing for Mental Health Disorders Genetic Testing for Neurodegenerative Disorders Genetic Testing for Neurofibromatosis and Related Disorders Genetic Testing for Ophthalmologic Conditions Genetic Testing for Polyposis Syndrome Genetic Testing for Rett Syndrome Genetic Testing of Mitochondrial Disorders |
| 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) |
General Genetic Testing, Germline Disorders Genetic Markers for Assessing Risk of Cardiovascular Disease Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies Genetic Testing for Duchenne, Becker, Facioscapulohumeral, and Limb-Girdle Muscular Dystrophies Genetic Testing for Familial Alzheimer Disease Genetic Testing for Familial Hypercholesterolemia Genetic Testing for Germline Mutations of the RET Proto-Oncogene Genetic Testing for Inherited Cardiomyopathies and Channelopathies Genetic Testing for Mental Health Disorders Genetic Testing for Neurodegenerative Disorders Genetic Testing for Neurofibromatosis and Related Disorders Genetic Testing for Ophthalmologic Conditions Genetic Testing for Polyposis Syndrome Genetic Testing for Rett Syndrome Genetic Testing of CADASIL Syndrome Genetic Testing of Mitochondrial Disorders |
| 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) |
General Genetic Testing, Germline Disorders Genetic Markers for Assessing Risk of Cardiovascular Disease Genetic Testing for CHARGE Syndrome Genetic Testing for Familial Hypercholesterolemia Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| 81408* | Molecular pathology procedure, Level 9 (eg, analysis of >50 exons in a single gene by DNA sequence analysis) |
Genetic Testing for Mental Health Disorders Genetic Testing for Neurodegenerative Disorders |
| 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 | |
| 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 | |
| 81412 | Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1 | |
| 81413* | Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); genomic sequence analysis panel, must include sequencing of at least 10 genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| 81414* | Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia); duplication/deletion gene analysis panel, must include analysis of at least 2 genes, including KCNH2 and KCNQ1 |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| 81415 | Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis | |
| 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) | |
| 81417 | Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome) | |
| 81419* | Epilepsy genomic sequence analysis panel, must include analyses for ALDH7A1, CACNA1A, CDKL5, CHD2, GABRG2, GRIN2A, KCNQ2, MECP2, PCDH19, POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC9A6, STXBP1, SYNGAP1, TCF4, TPP1, TSC1, TSC2, and ZEB2 | |
| 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, USH1C, USH1G, USH2A, and WFS1 | |
| 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 | |
| 81432 | Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); genomic sequence analysis panel, must include sequencing of at least 10 genes, always including BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53 |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81433* | Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer); duplication/deletion analysis panel, must include analyses for BRCA1, BRCA2, MLH1, MSH2, and STK11 |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81434* | Hereditary retinal disorders (eg, retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy), genomic sequence analysis panel, must include sequencing of at least 15 genes, including ABCA4, CNGA1, CRB1, EYS, PDE6A, PDE6B, PRPF31, PRPH2, RDH12, RHO, RP1, RP2, RPE65, RPGR, and USH2A |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81435* | Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); genomic sequence analysis panel, must include sequencing of at least 10 genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11 |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81436* | Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis); duplication/deletion analysis panel, must include analysis of at least 5 genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11 |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81437* | Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); genomic sequence analysis panel, must include sequencing of at least 6 genes, including MAX, SDHB, SDHC, SDHD, TMEM127, and VHL |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81438* | Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81439* | Hereditary cardiomyopathy (eg, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy), genomic sequence analysis panel, must include sequencing of at least 5 cardiomyopathy-related genes (eg, DSG2, MYBPC3, MYH7, PKP2, TTN) |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| 81442* | Noonan spectrum disorders (eg, Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1 |
General Genetic Testing, Germline Disorders Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 81443* | Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-associated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (eg, ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH) | |
| 81445* | Targeted genomic sequence analysis panel, solid organ neoplasm, 5-50 genes (eg, ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, MET, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, if performed; DNA analysis or combined DNA and RNA analysis | |
| 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) |
Genetic Testing for Diagnosis of Inherited Peripheral Neuropathies |
| 81450* | Targeted genomic sequence analysis panel, hematolymphoid neoplasm or disorder, 5-50 genes (eg, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NOTCH1, NPM1, NRAS), interrogation for sequence variants, and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; DNA analysis or combined DNA and RNA analysis | |
| 81455* | Targeted genomic sequence analysis panel, solid organ or hematolymphoid neoplasm or disorder, 51 or greater genes (eg, ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MET, MLL, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET), interrogation for sequence variants and copy number variants or rearrangements, or isoform expression or mRNA expression levels, if performed; DNA analysis or combined DNA and RNA analysis |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 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 optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection | |
| 81465* | Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed | |
| 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 Proprietary test: Breast Cancer Index Lab/manufacturer: Biotheranostics, Inc |
|
| 81519* |
Oncology (breast), mRNA, gene expression profiling by real-time RT-PCR of 21 genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence score Proprietary test: Oncotype DX® Lab/manufacturer: Genomic Health |
|
| 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 Proprietary test: Prosigna® Breast Cancer Assay Lab/manufacturer: NanoString Technologies, Inc. |
|
| 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 Proprietary test: MammaPrint® Lab/Manufacturer: Agendia, Inc. |
|
| 81522* |
Oncology (breast), mRNA, gene expression profiling by RT-PCR of 12 genes (8 content and 4 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as recurrence risk score Proprietary test: EndoPredict® Lab/Manufacturer: Myriad Genetic Laboratories, Inc. |
|
| 81523* |
Oncology (breast), mRNA, next-generation sequencing gene expression profiling of 70 content genes and 31 housekeeping genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as index related to risk to distant metastasis Proprietary test: MammaPrint® Lab/Manufacturer: Agendia, Inc |
|
| 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 Proprietary test: Prolaris® Lab/Manufacturer: Myriad Genetic Laboratories, Inc |
Gene Expression Profiling and Protein Biomarkers for Prostate Cancer |
| 81542* |
Oncology (prostate), mRNA, microarray gene expression profiling of 22 content genes, utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as metastasis risk score Proprietary test: Decipher® Prostate Lab/Manufacturer: Biosciences |
Gene Expression Profiling and Protein Biomarkers for Prostate Cancer |
| 81546* |
Oncology (thyroid), mRNA, gene expression analysis of 10,196 genes, utilizing fine needle aspirate, algorithm reported as a categorical result (eg, benign or suspicious) Proprietary test: Afirma® Genomic SequencingClassifier Lab/Manufacturer: Veracyte, Inc |
|
| 81552* |
Oncology (uveal melanoma), mRNA, gene expression profiling by real-time RT-PCR of 15 genes (12 content and 3 housekeeping), utilizing fine needle aspirate or formalin-fixed paraffin-embedded tissue, algorithm reported as risk of metastasis Proprietary test: DecisionDx® -UM test Lab/Manufacturer: Castle Biosciences, Inc |
Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 81595* |
Cardiology (heart transplant), mRNA, gene expression profiling by real-time quantitative PCR of 20 genes (11 content and 9 housekeeping), utilizing subfraction of peripheral blood, algorithm reported as a rejection risk score Proprietary test: AlloMap® Lab/Manufacturer: CareDx, Inc. |
|
| 88240* | Cryopreservation, freezing and storage of cells, each cell line | |
| 88241* | Thawing and expansion of frozen cells, each aliquot | |
| 88245* | Chromosome analysis for breakage syndromes; baseline Sister Chromatid Exchange (SCE), 20-25 cells | |
| 88248* | Chromosome analysis for breakage syndromes; baseline breakage, score 50-100 cells, count 20 cells, 2 karyotypes (eg, for ataxia telangiectasia, Fanconi anemia, fragile X) | |
| 88249* | Chromosome analysis for breakage syndromes; score 100 cells, clastogen stress (eg, diepoxybutane, mitomycin C, ionizing radiation, UV radiation) | |
| 88261* | Chromosome analysis; count 5 cells, 1 karyotype, with banding | |
| 88262* | Chromosome analysis; count 15-20 cells, 2 karyotypes, with banding | |
| 88263* | Chromosome analysis; count 45 cells for mosaicism, 2 karyotypes, with banding | |
| 88264* | Chromosome analysis; analyze 20-25 cells | |
| 88269* | Chromosome analysis, in situ for amniotic fluid cells, count cells from 6-12 colonies, 1 karyotype, with banding | |
| 88271* | Molecular cytogenetics; DNA probe, each (eg, FISH) |
General Genetic Testing, Somatic Disorders |
| 88272* | Molecular cytogenetics; chromosomal in situ hybridization, analyze 3-5 cells (eg, for derivatives and markers) | |
| 88273* | Molecular cytogenetics; chromosomal in situ hybridization, analyze 10-30 cells (eg, for microdeletions) | |
| 88274* | Molecular cytogenetics; interphase in situ hybridization, analyze 25-99 cells | |
| 88275* | Molecular cytogenetics; interphase in situ hybridization, analyze 100-300 cells | |
| 88280* | Chromosome analysis; additional karyotypes, each study | |
| 88283* | Chromosome analysis; additional specialized banding technique (eg, NOR, C-banding) | |
| 88285* | Chromosome analysis; additional cells counted, each study | |
| 88289* | Chromosome analysis; additional high resolution study | |
| 88291* | Cytogenetics and molecular cytogenetics, interpretation and report | |
| 0001U* |
Red blood cell antigen typing, DNA, human erythrocyte antigen gene analysis of 35 antigens from 11 blood groups, utilizing whole blood, common RBC alleles reported Proprietary test: PreciseType® HEA Test Lab/Manufacturer: Immucor, Inc |
|
| 0005U* |
Oncology (prostate) gene expression profile by real-time RT-PCR of 3 genes (ERG, PCA3, and SPDEF), urine, algorithm reported as risk score Proprietary test: ExoDx® Prostate (IntelliScore) Lab/manufacturer: Exosome Diagnostics, Inc. |
Gene Expression Profiling and Protein Biomarkers for Prostate Cancer |
| 0016U* |
Oncology (hematolymphoid neoplasia), RNA, BCR/ABL1 major and minor breakpoint fusion transcripts, quantitative PCR amplification, blood or bone marrow, report of fusion not detected or detected with quantitation Proprietary test: QuantideX® qPCR BCR-ABL Test Lab/Manufacturer: University of Iowa, Department of Pathology, Asuragen |
|
| 0017U* |
Oncology (hematolymphoid neoplasia), JAK2 mutation, DNA, PCR amplification of exons 12-14 and sequence analysis, blood or bone marrow, report of JAK2 mutation not detected or detected Proprietary test: JAK2 Mutation Lab/Manufacturer: University of Iowa, Department of Pathology |
|
| 0022U* |
Targeted genomic sequence analysis panel, cholangiocarcinoma and non-small cell lung neoplasia, DNA and RNA analysis, 1-23 genes, interrogation for sequence variants and rearrangements, reported as presence/absence of variants and associated therapy(ies) to consider Proprietary test: Oncomine™ Dx Target Test Lab/Manufacturer: Thermo Fisher Scientific |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 0023U* |
Oncology (acute myelogenous leukemia), DNA, genotyping of internal tandem duplication, p.D835, p.I836, using mononuclear cells, reported as detection or non-detection of FLT3 mutation and indication for or against the use of midostaurin Proprietary test: LeukoStrat® CDx FLT3 Mutation Assay Lab/Manufacturer: LabPMM LLC/Invivoscribe Technologies, Inc. |
|
| 0026U* |
Oncology (thyroid), DNA and mRNA of 112 genes, next-generation sequencing, fine needle aspirate of thyroid nodule, algorithmic analysis reported as a categorical result (“Positive, high probability of malignancy” or “Negative, low probability of malignancy”) Proprietary test: Thyroseq Genomic Classifier Lab/Manufacturer: CBLPath, Inc/University of Pittsburgh Medical Center |
|
| 0027U* |
JAK2 (Janus kinase 2) (e.g., myeloproliferative disorder) gene analysis, targeted sequence analysis exons 12-15 Proprietary test: JAK2 Exons 12 to 15 Sequencing Lab/Manufacturer: Mayo Clinic |
|
| 0030U* |
Drug metabolism (warfarin drug response), targeted sequence analysis (ie, CYP2C9, CYP4F2, VKORC1, rs12777823) Proprietary test: Warfarin Response Genotype Lab/Manufacturer: Mayo Clinic |
|
| 0034U* | TPMT (thiopurine S-methyltransferase), NUDT15 (nudix hydroxylase 15) (eg, thiopurine metabolism) gene analysis, common variants (ie, TPMT *2, *3A, *3B, *3C, *4, *5, *6, *8, *12; NUDT15 *3, *4, *5) Proprietary test: Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping Lab/Manufacturer: Mayo Clinic |
|
| 0037U* |
Targeted genomic sequence analysis, solid organ neoplasm, DNA analysis of 324 genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational burden Proprietary test: FoundationOne CDx™ (F1CDx) Lab/Manufacturer: Foundation Medicine, Inc |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0040U* |
BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis, major breakpoint, quantitative Proprietary test: MRDx® BCR-ABL Test Lab/Manufacturer: MolecularMD |
|
| 0046U* |
FLT3 (fms-related tyrosine kinase 3) (eg, acute myeloid leukemia) internal tandem duplication (ITD) variants, quantitative Proprietary test: FLT3 ITD MRD by NGS Lab/Manufacturer: LabPMM LLC/Invivoscribe Technologies, Inc. |
|
| 0047U* |
Oncology (prostate), mRNA, gene expression profiling by real-time RT-PCR of 17 genes (12 content and 5 housekeeping), utilizing formalin-fixed paraffin-embedded tissue, algorithm reported as a risk score Proprietary test: Oncotype DX® Genomic Prostate Score™ Lab/manufacturer: Genomic Health, Inc. |
Gene Expression Profiling and Protein Biomarkers for Prostate Cancer |
| 0048U* |
Oncology (solid organ neoplasia), DNA, targeted sequencing of protein-coding exons of 468 cancer-associated genes, including interrogation for somatic mutations and microsatellite instability, matched with normal specimens, utilizing formalin-fixed paraffin-embedded tumor tissue, report of clinically significant mutation(s) Proprietary test: MSK-IMPACT (Integrated Mutation Profiling of Actionable Cancer Targets) Lab/Manufacturer: Memorial Sloan Kettering Cancer Center |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0049U* |
NPM1 (nucleophosmin) (eg, acute myeloid leukemia) gene analysis, quantitative Proprietary test: NPMI MRD by NGS Lab/Manufacturer: LabPMM LLC/Invivoscribe Technologies, Inc. |
|
| 0080U* |
Oncology (lung), mass spectrometric analysis of galectin-3-binding protein and scavenger receptor cysteine-rich type 1 protein M130, with five clinical risk factors (age, smoking status, nodule diameter, nodule-spiculation status and nodule location), utilizing plasma, algorithm reported as a categorical probability of malignancy Proprietary test: BDX-XL2 Lab/Manufacturer: Biodesix®, Inc |
|
| 0084U* |
Red blood cell antigen typing, DNA, genotyping of 10 blood groups with phenotype prediction of 37 red blood cell antigens Proprietary test: BLOODchip® ID CORE XT™ Lab/Manufacturer: Grifols Diagnostic Solutions Inc. |
|
| 0089U* |
Oncology (melanoma), gene expression profiling by RTqPCR, PRAME and LINC00518, superficial collection using adhesive patch(es) Proprietary test: Pigmented Lesion Assay (PLA) Lab/Manufacturer: DermTech |
Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 0101U* |
Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (15 genes [sequencing and deletion/duplication], EPCAM and GREM1 [deletion/duplication only]) Proprietary test: ColoNext® Lab/Manufacturer: Ambry Genetics® |
Genetic Cancer Susceptibility Using Next Generation Sequencing Genetic Testing and Genetic Expression Profiling in Patients with Cutaneous Melanoma |
| 0102U |
Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (17 genes [sequencing and deletion/duplication]) Proprietary test: BreastNext® Lab/Manufacturer: Ambry Genetics® |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 0103U |
Hereditary ovarian cancer (eg, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with MRNA analytics to resolve variants of unknown significance when indicated (24 genes [sequencing and deletion/duplication], EPCAM [deletion/duplication only]) Proprietary test: OvaNext® Lab/Manufacturer: Ambry Genetics® |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 0111U* |
Oncology (colon cancer), targeted KRAS (codons 12, 13, and 61) and NRAS (codons 12, 13, and 61) gene analysis utilizing formalin-fixed paraffin-embedded tissue Proprietary test: Praxis ™ Extended RAS Panel Lab/Manufacturer: Illumina |
|
| 0118U* |
Transplantation medicine, quantification of donor-derived cell-free DNA using whole genome next-generation sequencing, plasma, reported as percentage of donor-derived cell-free DNA in the total cell-free DNA Proprietary test: Viracor TRAC™ dd-cfDNA Lab/Manufacturer: Viracor Eurofins |
|
| 0129U |
Hereditary breast cancer–related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis and deletion/duplication analysis panel (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53) Proprietary test: BRCAplus Lab/Manufacturer: Ambry Genetics |
Genetic Cancer Susceptibility Using Next Generation Sequencing |
| 0155U* |
Oncology (breast cancer), DNA, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha) (eg, breast cancer) gene analysis (ie, p.C420R, p.E542K, p.E545A, p.E545D [g.1635G>T only], p.E545G, p.E545K, p.Q546E, p.Q546R, p.H1047L, p.H1047R, p.H1047Y), utilizing formalin-fixed paraffin-embedded breast tumor tissue, reported as PIK3CA gene mutation status Proprietary test: therascreen® PIK3CA RGQ PCR Kit Lab/Manufacturer: QIAGEN |
|
| 0169U* |
NUDT15 (nudix hydrolase 15) and TPMT (thiopurine S-methyltransferase) (eg, drug metabolism) gene analysis, common variants Proprietary test: NT (NUDT15 and TPMT) genotyping panel Lab/Manufacturer: RPRD Diagnostics |
|
| 0171U* |
Targeted genomic sequence analysis panel, acute myeloid leukemia, myelodysplastic syndrome, and myeloproliferative neoplasms, DNA analysis, 23 genes, interrogation for sequence variants, rearrangements and minimal residual disease, reported as presence/absence Proprietary test: MyMRD® NGS Panel Lab/Manufacturer: Laboratory for Personalized Molecular Medicine |
|
| 0172U* |
Oncology (solid tumor as indicated by the label), somatic mutation analysis of BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) and analysis of homologous recombination deficiency pathways, DNA, formalin-fixed paraffin-embedded tissue, algorithm quantifying tumor genomic instability score Proprietary test: myChoice® CDx Lab/Manufacturer: Myriad Genetics Laboratories, Inc |
|
| 0177U* |
Oncology (breast cancer), DNA, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene analysis of 11 gene variants utilizing plasma, reported as PIK3CA gene mutation status Proprietary test: therascreen® PIK3CA RGQ PCR Kit Lab/Manufacturer: QIAGEN |
|
| 0179U* |
Oncology (non-small cell lung cancer), cell-free DNA, targeted sequence analysis of 23 genes (single nucleotide variations, insertions and deletions, fusions without prior knowledge of partner/breakpoint, copy number variations), with report of significant mutation(s) Proprietary test: Resolution ctDx Lung™ Lab/Manufacturer: Resolution Bioscience |
|
| 0180U* |
Red cell antigen (ABO blood group) genotyping (ABO), gene analysis Sanger/chain termination/conventional sequencing, ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) gene, including subtyping, 7 exons Proprietary test: Navigator ABO Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0181U* |
Red cell antigen (Colton blood group) genotyping (CO), gene analysis, AQP1 (aquaporin 1 [Colton blood group]) exon 1 Proprietary test: Navigator CO Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0182U* |
Red cell antigen (Cromer blood group) genotyping (CROM), gene analysis, CD55 (CD55 molecule [Cromer blood group]) exons 1-10 Proprietary test: Navigator CROM Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0183U* |
Red cell antigen (Diego blood group) genotyping (DI), gene analysis, SLC4A1 (solute carrier family 4 member 1 [Diego blood group]) exon 19 Proprietary test: Navigator DI Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0184U* |
Red cell antigen (Dombrock blood group) genotyping (DO), gene analysis, ART4 (ADP-ribosyltransferase 4 [Dombrock blood group]) exon 2 Proprietary test: Navigator DO Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0185U* |
Red cell antigen (H blood group) genotyping (FUT1), gene analysis, FUT1 (fucosyltransferase 1 [H blood group]) exon 4 Proprietary test: Navigator FUT1 Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0186U* |
Red cell antigen (H blood group) genotyping (FUT2), gene analysis, FUT2 (fucosyltransferase 2) exon 2 Proprietary test: Navigator FUT2 Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0187U* |
Red cell antigen (Duffy blood group) genotyping (FY), gene analysis, ACKR1 (atypical chemokine receptor 1 [Duffy blood group]) exons 1-2 Proprietary test: Navigator FY Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0188U* |
Red cell antigen (Gerbich blood group) genotyping (GE), gene analysis, GYPC (glycophorin C [Gerbich blood group]) exons 1-4 Proprietary test: Navigator GE Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0189U* | Red cell antigen (MNS blood group) genotyping (GYPA), gene analysis, GYPA (glycophorin A [MNS blood group]) introns 1, 5, exon 2 Proprietary test: Navigator GYPA Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0190U* |
Red cell antigen (MNS blood group) genotyping (GYPB), gene analysis, GYPB (glycophorin B [MNS blood group]) introns 1, 5, pseudoexon 3 Proprietary test: Navigator GYPB Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0191U* |
Red cell antigen (Indian blood group) genotyping (IN), gene analysis, CD44 (CD44 molecule [Indian blood group]) exons 2, 3, 6 Proprietary test: Navigator IN Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0192U* |
Red cell antigen (Kidd blood group) genotyping (JK), gene analysis, SLC14A1 (solute carrier family 14 member 1 [Kidd blood group]) gene promoter, exon 9 Proprietary test: Navigator JK Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0193U* |
Red cell antigen (JR blood group) genotyping (JR), gene analysis, ABCG2 (ATP binding cassette subfamily G member 2 [Junior blood group]) exons 2-26 Proprietary test: Navigator JR Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0194U* |
Red cell antigen (Kell blood group) genotyping (KEL), gene analysis, KEL (Kell metallo-endopeptidase [Kell blood group]) exon 8 Proprietary test: Navigator KEL Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0195U* |
KLF1 (Kruppel-like factor 1), targeted sequencing (ie, exon 13) Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0196U* |
Red cell antigen (Lutheran blood group) genotyping (LU), gene analysis, BCAM (basal cell adhesion molecule [Lutheran blood group]) exon 3 Proprietary test: Navigator LU Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0197U* |
Red cell antigen (Landsteiner-Wiener blood group) genotyping (LW), gene analysis, ICAM4 (intercellular adhesion molecule 4 [Landsteiner-Wiener blood group]) exon 1 Proprietary test: Navigator LW Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0198U* |
Red cell antigen (RH blood group) genotyping (RHD and RHCE), gene analysis Sanger/chain termination/conventional sequencing, RHD (Rh blood group D antigen) exons 1-10 and RHCE (Rh blood group CcEe antigens) exon 5 Proprietary test: Navigator RHD/CE Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0199U* |
Red cell antigen (Scianna blood group) genotyping (SC), gene analysis, ERMAP (erythroblast membrane associated protein [Scianna blood group]) exons 4, 12 Proprietary test: Navigator SC Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0200U* |
Red cell antigen (Kx blood group) genotyping (XK), gene analysis, XK (X-linked Kx blood group) exons 1-3 Proprietary test: Navigator XK Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0201U* |
Red cell antigen (Yt blood group) genotyping (YT), gene analysis, ACHE (acetylcholinesterase [Cartwright blood group]) exon 2 Proprietary test: Navigator YT Sequencing Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0204U* |
Oncology (thyroid), mRNA, gene expression analysis of 593 genes (including BRAF, RAS, RET, PAX8, and NTRK) for sequence variants and rearrangements, utilizing fine needle aspirate, reported as detected or not detected Proprietary test: Afirma Xpression Atlas Lab/Manufacturer: Veracyte, Inc |
|
| 0211U* |
Oncology (pan-tumor), DNA and RNA by next-generation sequencing, utilizing formalin-fixed paraffin-embedded tissue, interpretative report for single nucleotide variants, copy number alterations, tumor mutational burden, and microsatellite instability, with therapy association Proprietary test: MI Cancer Seek™ - NGS Analysis Lab/Manufacturer: Caris MPI d/b/a Caris Life Sciences |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0221U* |
Red cell antigen (ABO blood group) genotyping (ABO), gene analysis, next-generation sequencing, ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase) gene Proprietary test: Navigator ABO Blood Group NGS Lab/Manufacturer: Grifols Immunohematology Center |
|
| 0222U* |
Red cell antigen (RH blood group) genotyping (RHD and RHCE), gene analysis, next-generation sequencing, RH proximal promoter, exons 1-10, portions of introns 2-3 Proprietary test: Navigator Rh Blood Group NGS Lab/Manufacturer: Grifols Immunohematology Cen |
|
| 0230U* |
AR (androgen receptor) (eg, spinal and bulbar muscular atrophy, Kennedy disease, X chromosome inactivation), full sequence analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® AR Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0231U* |
CACNA1A (calcium voltage-gated channel subunit alpha 1A) (eg, spinocerebellar ataxia), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) gene expansions, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® CACNA1A Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0232U* |
CSTB (cystatin B) (eg, progressive myoclonic epilepsy type 1A, Unverricht-Lundborg disease), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® CSTB Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0233U* |
FXN (frataxin) (eg, Friedreich ataxia), gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, short tandem repeat (STR) expansions, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® FXN Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0234U* |
MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® MECP2 Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0235U* |
PTEN (phosphatase and tensin homolog) (eg, Cowden syndrome, PTEN hamartoma tumor syndrome), full gene analysis, including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® PTEN Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0236U* |
SMN1 (survival of motor neuron 1, telomeric) and SMN2 (survival of motor neuron 2, centromeric) (eg, spinal muscular atrophy) full gene analysis, including small sequence changes in exonic and intronic regions, duplications and deletions, and mobile element insertions Proprietary test: Genomic Unity® SMN1/2 Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0237U* |
Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia), genomic sequence analysis panel including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A, including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® Cardiac Ion Channelopathies Analysis Lab/Manufacturer: Variantyx Inc |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| 0238U* |
Oncology (Lynch syndrome), genomic DNA sequence analysis of MLH1, MSH2, MSH6, PMS2, and EPCAM, including small sequence changes in exonic and intronic regions, deletions, duplications, mobile element insertions, and variants in non-uniquely mappable regions Proprietary test: Genomic Unity® Lynch Syndrome Analysis Lab/Manufacturer: Variantyx Inc |
|
| 0239U* |
Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free DNA, analysis of 311 or more genes, interrogation for sequence variants, including substitutions, insertions, deletions, select rearrangements, and copy number variations Proprietary test: FoundationOne® Liquid CDx Lab/Manufacturer: Foundation Medicine, Inc |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0242U* |
Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free circulating DNA analysis of 55-74 genes, interrogation for sequence variants, gene copy number amplifications, and gene rearrangements Proprietary test: Guardant360® CDx Lab/Manufacturer: Guardant Health Inc |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0244U* |
Oncology (solid organ), DNA, comprehensive genomic profiling, 257 genes, interrogation for single-nucleotide variants, insertions/deletions, copy number alterations, gene rearrangements, tumor-mutational burden and microsatellite instability, utilizing formalin-fixed paraffin-embedded tumor tissue Proprietary test: Oncotype MAP™ Pan-Cancer Tissue Test Lab/Manufacturer: Paradigm Diagnostics, Inc |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0245U* |
Oncology (thyroid), mutation analysis of 10 genes and 37 RNA fusions and expression of 4 mRNA markers using next-generation sequencing, fine needle aspirate, report includes associated risk of malignancy expressed as a percentage Proprietary test: ThyGeNEXT® Thyroid Oncogene Panel Lab/Manufacturer: Interpace Diagnostics |
|
| 0246U* |
Red blood cell antigen typing, DNA, genotyping of at least 16 blood groups with phenotype prediction of at least 51 red blood cell antigens Proprietary test: PrecisionBlood™ Lab/Manufacturer: San Diego Blood Bank |
|
| 0250U* |
Oncology (solid organ neoplasm), targeted genomic sequence DNA analysis of 505 genes, interrogation for somatic alterations (SNVs [single nucleotide variant], small insertions and deletions, one amplification, and four translocations), microsatellite instability and tumor-mutation burden Proprietary test: PGDx elio™ tissue complete Lab/Manufacturer: Personal Genome Diagnostics, Inc |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0252U* |
Fetal aneuploidy short tandem–repeat comparative analysis, fetal DNA from products of conception, reported as normal (euploidy), monosomy, trisomy, or partial deletion/duplications, mosaicism, and segmental aneuploidy Proprietary test: POC (Products of Conception) Lab/Manufacturer: Igenomix® |
|
| 0268U* |
Hematology (atypical hemolytic uremic syndrome [aHUS]), genomic sequence analysis of 15 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ aHUS Genetic Evaluation Lab/Manufacturer: Versiti™ Diagnostic Laboratories |
|
| 0269U* |
Hematology (autosomal dominant congenital thrombocytopenia), genomic sequence analysis of 14 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Autosomal Dominant Thrombocytopenia Panel Lab/Manufacturer: Versiti™ Diagnostic Laboratories/Versiti™ |
|
| 0270U* |
Hematology (congenital coagulation disorders), genomic sequence analysis of 20 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Coagulation Disorder Panel Lab/Manufacturer: Versiti™ Diagnostic Laboratories/Versiti™ |
|
| 0271U* |
Hematology (congenital neutropenia), genomic sequence analysis of 23 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Congenital Neutropenia Panel Lab/Manufacturer: Versiti™ Diagnostic Laboratories/Versiti™ |
|
| 0272U* |
Hematology (genetic bleeding disorders), genomic sequence analysis of 51 genes, blood, buccal swab, or amniotic fluid, comprehensive Proprietary test: Versiti™ Comprehensive Bleeding Disorder Panel Lab/Manufacturer: Versiti™ Diagnostic Laboratories/Versiti™ |
|
| 0273U* |
Hematology (genetic hyperfibrinolysis, delayed bleeding), genomic sequence analysis of 8 genes (F13A1, F13B, FGA, FGB, FGG, SERPINA1, SERPINE1, SERPINF2, PLAU), blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Fibrinolytic Disorder Panel Lab/Manufacturer: Versiti™ Diagnostic Laboratories/Versiti™ |
|
| 0274U* |
Hematology (genetic platelet disorders), genomic sequence analysis of 43 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Comprehensive Platelet Disorder Panel Lab/Manufacturer: Versiti™ Diagnostic Laboratories/Versiti™ |
|
| 0276U* |
Hematology (inherited thrombocytopenia), genomic sequence analysis of 42 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Inherited Thrombocytopenia Panel Lab/Manufacturer: Versiti™ Comprehensive Bleeding Disorder Panel |
|
| 0277U* |
Hematology (genetic platelet function disorder), genomic sequence analysis of 31 genes, blood, buccal swab, or amniotic fluid Proprietary test: Versiti™ Platelet Function Disorder Panel Lab/Manufacturer: Versiti™ Comprehensive Bleeding Disorder Panel |
|
| 0282U* |
Red blood cell antigen typing, DNA, genotyping of 12 blood group system genes to predict 44 red blood cell antigen phenotypes Proprietary test: Versiti™ Red Cell Genotyping Panel Lab/Manufacturer: Versiti™ Comprehensive Bleeding Disorder Panel |
|
| 0287U* |
Oncology (thyroid), DNA and mRNA, next-generation sequencing analysis of 112 genes, fine needle aspirate or formalin-fixed paraffin-embedded (FFPE) tissue, algorithmic prediction of cancer recurrence, reported as a categorical risk result (low, intermediate, high) Proprietary test: ThyroSeq® CRC Lab/Manufacturer: CBLPath, Inc/University of Pittsburgh Medical Center |
|
| 0326U* |
Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free circulating DNA analysis of 83 or more genes, interrogation for sequence variants, gene copy number amplifications, gene rearrangements, microsatellite instability and tumor mutational Proprietary test: Guardant360® Lab/Manufacturer: Guardant Health, Inc |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0388U* | Oncology (non-small cell lung cancer), next-generation sequencing with identification of single nucleotide variants, copy number variants, insertions and deletions, and structural variants in 37 cancer-related genes, plasma, with report for alteration detection | |
| 0391U* | Oncology (solid tumor), DNA and RNA by next-generation sequencing, utilizing formalin-fixed paraffin-embedded (FFPE) tissue, 437 genes, interpretive report for single nucleotide variants, splice-site variants, insertions/deletions, copy number alterations, gene fusions, tumor mutational burden, and microsatellite instability, with algorithm quantifying immunotherapy response score |
Microsatellite Instability and Tumor Mutational Burden Testing |
| 0396U* | Obstetrics (pre-implantation genetic testing), evaluation of 300000 DNA single-nucleotide polymorphisms (SNPs) by microarray, embryonic tissue, algorithm reported as a probability for single-gene germline conditions | |
| 0397U* | Oncology (non-small cell lung cancer), cell-free DNA from plasma, targeted sequence analysis of at least 109 genes, including sequence variants, substitutions, insertions, deletions, select rearrangements, and copy number variations | |
| 0400U* | Obstetrics (expanded carrier screening), 145 genes by next-generation sequencing, fragment analysis and multiplex ligation-dependent probe amplification, DNA, reported as carrier positive or negative | |
| 0405U | Oncology (pancreatic), 59 methylation haplotype block markers, next-generation sequencing, plasma, reported as cancer signal detected or not detected | Genetic Cancer Susceptibility Using Next Generation Sequencing [PDF] |
| 0409U | Oncology (solid tumor), DNA (80 genes) and RNA (36 genes), by next-generation sequencing from plasma, including single nucleotide variants, insertions/deletions, copy number alterations, microsatellite instability, and fusions, report showing identified mutations with clinical actionability | Microsatellite Instability and Tumor Mutational Burden Testing [PDF] |
| 0414U | Oncology (lung), augmentative algorithmic analysis of digitized whole slide imaging for 8 genes (ALK, BRAF, EGFR, ERBB2, MET, NTRK1-3, RET, ROS1), and KRAS G12C and PD-L1, if performed, formalin-fixed paraffin-embedded (FFPE) tissue, reported as positive or negative for each biomarker | Testing for Targeted Therapy of Non-Small-Cell Lung Cancer [PDF] |
| G9143* | Warfarin responsiveness testing by genetic technique using any method, any number of specimen(s) | |
| S3840 | DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to multiple endocrine neoplasia type 2 |
General Genetic Testing, Germline Disorders Genetic Testing for Germline Mutations of the RET Proto-Oncogene |
| S3845 | Genetic testing for alpha-thalassemiaa | |
| S3846 | Genetic testing for hemoglobin E beta-thalassemia | |
| S3849* | Genetic testing for niemann-pick disease | |
| S3854* | Gene expression profiling panel for use in the management of breast cancer treatment | |
| S3861* | Genetic testing, sodium channel, voltage-gated, type V, alpha subunit (SCN5A) and variants for suspected brugada syndrome |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| S3865 | Comprehensive gene sequence analysis for hypertrophic cardiomyopathy |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| S3866 | Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family |
Genetic Testing for Inherited Cardiomyopathies and Channelopathies |
| S3870* | Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder and/or intellectual disability |
The following codes are for use when submitting a request for a genetic testing service for which there is no existing national code that adequately describes the item or service being billed.
| Code | Description |
|---|---|
| 81479 | Unlisted molecular pathology procedure |
| 81599 | Unlisted multianalyte assay with algorithmic analysis |
| 84999 | Unlisted chemistry procedure |
| 89240 | Unlisted miscellaneous pathology test |
Revision History
| Date | Nature of Revision |
|---|---|
| 08/03/2026 | Migrated to new platform. |