Complete Overview of 2025 CPT Codes for Genetic Testing
Genetic testing is essential for diagnosing hereditary conditions, informing treatment choices, and forecasting disease risks. As technology progresses, it is imperative that medical billing and coding evolve accordingly. The updates to the CPT codes for 2025 introduce a number of new codes related to genetic testing, which will affect medical practices, laboratories, and insurance reimbursement processes. For those involved in medical coding, billing, or revenue cycle management, it is vital to comprehend these updates to ensure accurate claims submission and adherence to compliance standards. This guide provides an overview of the new 2025 CPT codes for genetic testing, along with billing guidelines and reimbursement strategies. Overview of 2025 CPT Code Changes for Genetic Testing Current Procedural Terminology (CPT) codes are utilized in medical billing to document diagnostic procedures, including genetic tests. The CPT codes for genetic testing are categorized into three primary groups: Tier 1 Molecular Pathology Codes: Standardized tests for frequently analyzed genes, such as BRCA1/BRCA2. Tier 2 Molecular Pathology CPT Codes: Applicable to less common genetic markers and panel-based tests. Proprietary Laboratory Analyses (PLA) Codes: Specific genetic tests conducted by individual laboratories. Genomic Sequencing Procedure (GSP) Codes: Codes designated for next-generation sequencing (NGS) and panel-based genomic testing. Each year, the CPT code set undergoes updates to incorporate advancements in medical services. The 2025 CPT code update features new codes for genetic and molecular testing, particularly in: Proprietary Laboratory Analyses (PLA) Codes Molecular Diagnostics Hereditary Testing These updates assist healthcare providers in billing accurately for genetic testing services, leading to quicker reimbursements and a reduction in claim denials. Scenario: Handling Denials of Genetic Test Claims A clinic files a genetic test claim utilizing an outdated CPT code, resulting in a denial from the payer. The billing team examines the updated 2025 CPT codes, resubmits the claim with the appropriate documentation, and successfully obtains reimbursement. Lesson: It is essential to verify the latest CPT codes before submitting claims to prevent revenue loss 2025 Optimized CPT Coding Guide for Molecular Pathology The American Medical Association (AMA) has implemented 420 updates to the CPT code set, which includes 270 new codes, 112 deletions, and 38 revisions. Importantly, 37% of the newly introduced codes are related to proprietary laboratory analyses, with a primary emphasis on innovative genetic testing. Code Description 81105 HPA-1 genotyping 81106 HPA-2 genotyping 81107 HPA-3 genotyping 81108 HPA-4 genotyping 81109 HPA-5 genotyping 81110 HPA-6 genotyping 81111 HPA-9 genotyping 81112 HPA-15 genotyping 81120 IDH1 common variants 81121 IDH2 common variants 81161 DMD duplication/deletion analysis 81162 BRCA1 & BRCA2 full sequencing and del/dup analysis 81163 BRCA1 & BRCA2 full sequencing analysis 81164 BRCA1 & BRCA2 full del/dup analysis 81165 BRCA1 full sequencing analysis 81166 BRCA1 full del/dup analysis 81167 BRCA2 full del/dup analysis 81168 CCND1/IGH translocation analysis 81170 ABL1 gene analysis 81171 AFF2 gene analysis for abnormal alleles 81172 AFF2 gene analysis for allele characterization 81173 AR gene full sequencing 81174 AR gene known familial variant analysis 81175 ASXL1 full gene sequencing 81176 ASXL1 targeted sequencing analysis 81177 ATN1 gene analysis for abnormal alleles 81178 ATXN1 gene analysis for abnormal alleles 81179 ATXN2 gene analysis for abnormal alleles 81180 ATXN3 gene analysis for abnormal alleles 81181 ATXN7 gene analysis for abnormal alleles 81182 ATXN8OS gene analysis for abnormal alleles 81183 ATXN10 gene analysis for abnormal alleles 81184 CACNA1A gene analysis for abnormal alleles 81185 Full gene sequencing of CACNA1A 81186 Analysis of known familial variants in the CACNA1A gene 81187 Analysis of the CNBP gene for abnormal alleles 81188 Analysis of the CSTB gene for abnormal alleles 81189 Full gene sequencing of CSTB 81190 Analysis of known familial variants in the CSTB gene 81191 Translocation analysis of NTRK1 81192 Translocation analysis of NTRK2 81193 Translocation analysis of NTRK3 81194 Translocation analysis of NTRK 81195 Cytogenomic genome-wide analysis for hematologic malignancies 81200 Translocation analysis of BCR/ABL1 81201 Translocation analysis of BCR/ABL1, minor breakpoint 81202 Translocation analysis of BCR/ABL1, other breakpoint 81203 Analysis of the BRAF gene for V600 variants 81204 Analysis of the EGFR gene for common variants 81205 Analysis of the EGFR gene for the T790M variant 81206 Analysis of the EGFR gene for resistance variants 81207 Analysis of the EGFR gene for uncommon variants 81208 Analysis of the FLT3 gene for common variants 81209 Analysis of the JAK2 gene for the V617F variant 81210 Analysis of the JAK2 gene for other variants 81218 Analysis of the KRAS gene for common variants 81219 Analysis of the KRAS gene for other variants 81225 Analysis of the NPM1 gene for common variants 81226 Analysis of the NRAS gene for common variants 81230 Full sequencing analysis of the RUNX1 gene 81231 Targeted sequencing analysis of the RUNX1 gene 81235 Analysis of the TERT gene 81240 Full sequencing analysis of the TP53 gene 81241 Analysis of known familial variants in the TP53 gene 81250 Analysis of the UGT1A1 gene 81255 Analysis of the VKORC1 gene 81256 Analysis of the CYP2C19 gene 81257 Analysis of the CYP2D6 gene 81258 Analysis of the CYP2C9 gene 81259 Analysis of CYP2C cluster genes 81265 Analysis of the HFE gene for common variants 81266 Analysis of the HFE gene for known familial variants 81267 Typing of HLA class I 81268 Typing of HLA class II 81270 Analysis of the HLA-B*5701 allele 81272 Typing of HLA-DQB1 81275 Typing of HLA-DRB1 81280 Analysis of the CFTR gene for common variants 81281 Analysis of the CFTR gene for known familial variants 81282 Full sequencing analysis of the CFTR gene 81283 Del/dup analysis of the CFTR gene 81290 Analysis of the MGMT gene 81291 Analysis of the MLH1 gene for common variants 81292 Full sequencing of the MLH1 gene 81293 Analysis of known familial variants in the MLH1 gene 81294 Del/dup analysis of the MLH1 gene 81295 Full sequencing of the MSH2 gene 81296 Known familial variant of the MSH2 gene 81297 Analysis of deletions/duplications in the MSH2 gene 81298 Full sequencing of the MSH6 gene 81299 Known familial variant of the MSH6 gene 81300 Analysis of deletions/duplications in the MSH6 gene 81301 Full