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ALL MEDICAL CODES IN CATEGORY Genetic Testing

2025 HCPCS code S3844

DNA test to identify connexin 26 gene (GJB2) to assess the probability of developing congenital profound deafness.

2025 HCPCS code S3841

Retinoblastoma genetic testing.

2025 HCPCS code S3840

DNA analysis for germline mutations of the RET proto-oncogene for susceptibility to multiple endocrine neoplasia type 2.

2025 CPT code 81274

This test characterizes alleles of the HTT gene, often to identify nucleotide repeats after an expanded allele size is found.

2025 CPT code 0209U

Cytogenomic constitutional (genome-wide) analysis for chromosomal abnormalities.

2025 HCPCS code S3852

DNA analysis for APOE epsilon 4 allele to assess Alzheimer's disease risk.

2025 HCPCS code S3870

Comparative genomic hybridization (CGH) microarray testing for developmental delay, autism spectrum disorder, and/or intellectual disability.

2025 CPT code 81269

Analysis of HBA1/HBA2 genes for duplications and deletions, associated with alpha thalassemia.

2025 HCPCS code S3865

Genetic analysis for specific gene mutation for hypertrophic cardiomyopathy (HCM).

2025 CPT code 81470

Genomic sequence analysis panel for X-linked intellectual disability (XLID), including at least 60 genes.

2025 CPT code 0031U

CYP1A2 (cytochrome P450 family 1, subfamily A, member 2) gene analysis, common variants.

2025 HCPCS code S3866

Genetic analysis for a specific gene mutation for hypertrophic cardiomyopathy (HCM) in an individual with a known HCM mutation in the family.

2025 CPT code 81167

BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements).

2025 CPT code 0102U

Genomic sequence analysis panel for hereditary breast cancer-related disorders (e.g., hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), using NGS, Sanger, MLPA, and array CGH with mRNA analytics.

2025 CPT code 81361

Analysis of the HBB gene for common variants (e.g., HbS, HbC, HbE).

2025 HCPCS code S3850

Sickle cell anemia genetic testing.

2025 HCPCS code S3861

Brugada syndrome genetic testing.

2025 HCPCS code S3854

Gene expression profiling panel for use in managing early-stage breast cancer treatment.

2025 HCPCS code S3849

Genetic testing for Niemann-Pick disease.

2025 CPT code 0378U

RFC1 gene repeat expansion variant analysis using PCR on blood, saliva, or buccal swab specimens.

2025 HCPCS code S3800

Genetic testing for amyotrophic lateral sclerosis (ALS).

2025 CPT code 0103U

Hereditary ovarian cancer (e.g., 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]).

2025 CPT code 0175U

Genomind® Professional PGx Express™ CORE: Analyzes 15 genes to guide psychiatric medication selection.

2025 CPT code 0213U

Genomic Unity® Whole Genome Analysis – Comparator. Analysis of the whole genome and mitochondrial DNA in a relative (comparator) of a proband patient to create a reference genome for comparison and evaluation of rare constitutional or genetic disorders.

2025 CPT code 0212U

Genomic Unity® Whole Genome Analysis – Proband from Variantyx Inc. Analysis of the whole genome and mitochondrial DNA provides data for evaluating rare, unexplained constitutional or genetic disorders in a proband patient.

2025 CPT code 0231U

Genomic Unity® CACNA1A Analysis is a PCR-free whole genome sequencing test evaluating the CACNA1A gene for variants linked to conditions like ataxia, migraine, and epilepsy.

2025 CPT code 0214U

Genomic Unity® Exome Plus Analysis – Proband from Variantyx Inc. Analysis of the exome and mitochondrial DNA provides data for evaluating rare, unexplained constitutional or genetic disorders in a proband patient.

2025 CPT code 0345U

Psychiatry (e.g., depression, anxiety, attention deficit hyperactivity disorder [ADHD]), genomic analysis panel, variant analysis of 15 genes, including deletion/duplication analysis of CYP2D6.

2025 HCPCS code S3846

Genetic testing for E beta thalassemia.

2025 HCPCS code S3853

Genetic testing for myotonic muscular dystrophy.

2025 CPT code 81443

Genomic sequence analysis panel for severe inherited conditions; must include at least 15 genes.

2025 CPT code 81231

Analysis of common CYP3A5 gene variants (*2, *3, *4, *5, *6, *7) impacting drug metabolism.

2025 CPT code 0380U

Targeted sequence analysis for 20 gene variants and CYP2D6 deletion or duplication, assessing drug metabolism, adverse drug reactions, and drug response.

2025 CPT code 0400U

Expanded carrier screening using next-generation sequencing to analyze 145 genes for variants associated with inherited disorders.

2025 CPT code +0074U

CYP2D6 gene targeted sequence analysis (non-duplicated gene when duplication/multiplication is trans).This is an add-on code and must be reported with a primary procedure code.