CPT Codes For Genomic Sequencing Procedures And Other Molecular Multianalyte Assays
Below is a list summarizing the CPT codes for genomic sequencing procedures and other molecular multianalyte assays.
CPT Code 81410
CPT 81410 describes a genomic sequence analysis panel, which must include sequencing of at least nine genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK, for aortic dysfunction or dilation (e.g., Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome).
CPT Code 81411
CPT 81411 describes a duplication/deletion analysis panel for aortic dysfunction or dilation, including analyses for TGFBR1, TGFBR2, MYH11, and COL3A1.
CPT Code 81412
CPT 81412 describes a genomic sequence analysis panel of Ashkenazi Jewish-associated disorders, which must include sequencing of at least nine genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1.
CPT Code 81413
CPT 81413 describes a genomic sequence analysis panel, which must include sequencing of at least ten genes, including ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, and SCN5A, for the diagnosis of cardiac ion channelopathies (e.g., Brugada syndrome, long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia).
CPT Code 81414
CPT 81414 describes a duplication/deletion gene analysis panel for cardiac ion channelopathies, such as Brugada syndrome, long QT syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia, which must include analysis of at least two genes, including KCNH2 and KCNQ1.
CPT Code 81415
CPT 81415 describes sequence analysis of exome (e.g., unexplained constitutional or heritable disorder or syndrome).
CPT Code 81417
CPT 81417 describes the re-evaluation of previously obtained exome sequence for an unexplained constitutional or heritable disorder or syndrome or updated knowledge or an unrelated condition/syndrome.
CPT Code 81419
CPT 81419 describes a genomic sequence analysis panel for epilepsy that 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.
CPT Code 81420
CPT 81420 describes a genomic sequence analysis panel of fetal chromosomal aneuploidy, including trisomy 21 and monosomy X, which must include analysis of chromosomes 13, 18, and 21 using circulating cell-free fetal DNA in maternal blood.
CPT Code 81422
CPT 81422 describes genomic sequence analysis of fetal chromosomal microdeletions (e.g., DiGeorge syndrome, Cri-du-chat syndrome) and circulating cell-free fetal DNA in maternal blood.
CPT Code 81425
CPT 81425 describes sequence analysis of a genome for an unexplained constitutional or heritable disorder or syndrome.
CPT Code 81427
CPT 81427 describes re-evaluating a previously obtained genome sequence for an unexplained constitutional or heritable disorder or syndrome, updated knowledge, or an unrelated condition/syndrome.
CPT Code 81430
CPT 81430 describes a genomic sequence analysis panel for hearing loss, which 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.
CPT Code 81431
CPT 81431 describes the duplication/deletion analysis panel for hearing loss, which must include copy number analyses for STRC and DFNB1 deletions in GJB2 and GJB6 genes.
CPT Code 81432
CPT 81432 describes the sequencing of at least ten genes, always including BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53, for the diagnosis of hereditary breast cancer-related disorders (e.g., hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer).
CPT Code 81433
CPT 81433 describes a duplication/deletion analysis panel for hereditary breast cancer-related disorders, including analyses for BRCA1, BRCA2, MLH1, MSH2, and STK11.
CPT Code 81434
CPT 81434 describes a genomic sequence analysis panel for hereditary retinal disorders, which 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.
CPT Code 81435
CPT 81435 describes a genomic sequence analysis panel for hereditary colon cancer disorders, which must include sequencing of at least ten genes, including APC, BMPR1A, CDH1, MLH1, MSH2, MSH6, MUTYH, PTEN, SMAD4, and STK11.
CPT Code 81436
CPT 81436 describes a duplication/deletion analysis panel for hereditary colon cancer disorders, such as Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, and familial adenomatosis polyposis, which must include analysis of at least five genes, including MLH1, MSH2, EPCAM, SMAD4, and STK11.
CPT Code 81437
CPT 81437 describes a genomic sequence analysis panel of hereditary neuroendocrine tumor disorders, which must include sequencing of at least six genes, including MAX, SDHB, SDHC, SDHD, TMEM127, and VHL.
CPT Code 81438
CPT 81438 describes a duplication/deletion analysis panel for hereditary neuroendocrine tumor disorders, which must include analyses for SDHB, SDHC, SDHD, and VHL.
CPT Code 81439
CPT 81439 describes a genomic sequence analysis panel of hereditary cardiomyopathy, which must include sequencing of at least five cardiomyopathy-related genes such as DSG2, MYBPC3, MYH7, PKP2, and TTN.
CPT Code 81440
CPT 81440 describes the analysis of at least 100 nuclear-encoded mitochondrial genes, including BCS1L, C10orf2, COQ2, COX10, DGUOK, MPV17, OPA1, PDSS2, POLG, POLG2, RRM2B, SCO1, SCO2, SLC25A4, SUCLA2, SUCLG1, TAZ, TK2, and TYMP, to diagnose neurologic or myopathic phenotypes.
CPT Code 81442
CPT 81442 describes a genomic sequence analysis panel for Noonan spectrum disorders, which must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1.
CPT Code 81443
CPT 81443 describes the genetic testing of at least 15 genes associated with severe inherited conditions such as cystic fibrosis, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-Sachs disease, beta hemoglobinopathies, phenylketonuria, and galactosemia, as part of a genomic sequence analysis panel.
CPT Code 81445
CPT 81445 describes a targeted genomic sequence analysis panel for solid organ neoplasms, which includes interrogation for sequence variants and copy number variants or rearrangements of 5-50 genes (e.g., ALK, BRAF, CDKN2A, EGFR, ERBB2, KIT, KRAS, MET, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, RET). It may include DNA analysis or combined DNA and RNA analysis.
CPT Code 81448
CPT 81448 describes a genomic sequence analysis panel of at least five peripheral neuropathy-related genes (e.g., BSCL2, GJB1, MFN2, MPZ, REEP1, SPAST, SPG11, SPTLC1) for hereditary peripheral neuropathies (e.g., Charcot-Marie-Tooth, spastic paraplegia).
CPT Code 81450
CPT 81450 describes a targeted genomic sequence analysis panel for a hematolymphoid neoplasm or disorder, involving interrogation for sequence variants, copy number variants or rearrangements, isoform expression or mRNA expression levels, and DNA or combined DNA and RNA analysis of 5-50 genes (e.g., BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NOTCH1, NPM1, NRAS).
CPT Code 81455
CPT 81455 describes a targeted genomic sequence analysis panel of 51 or more genes, such as ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MET, MLL, NOTCH1, NPM1, NRAS, PDGFRA, PDGFRB, PGR, PIK3CA, PTEN, and RET, for the interrogation of sequence variants, copy number variants or rearrangements, or isoform expression or mRNA expression levels, for solid organ or hematolymphoid neoplasm or disorder, with DNA analysis or combined DNA and RNA analysis.
CPT Code 81460
CPT 81460 describes the genomic sequence analysis of the entire mitochondrial genome with heteroplasmy detection for conditions such as Leigh Syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERFF), neuropathy, ataxia, and retinitis pigmentosa (NARP), and Leber hereditary optic neuropathy (LHON).
CPT Code 81465
CPT 81465 describes the Whole mitochondrial genome large deletion analysis panel, including heteroplasmy detection, if performed, for conditions such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia.
CPT Code 81470
CPT 81470 describes a genomic sequence analysis panel for X-linked intellectual disability (XLID), which must include sequencing of at least 60 genes, such as ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2.
CPT Code 81471
CPT 81471 describes duplication/deletion gene analysis for X-linked intellectual disability (XLID), including analysis of at least 60 genes such as ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2.
