November 12, 2020 | By Priscilla J. Alfaro, MD, FAAP, CPC, CPMA, COC, CFE
Genetic testing has grown exponentially over the last decade. The elimination of patent protection on human genes, the proliferation of next-generation sequencing (NGS) technology, and the rapid discovery of gene-disease connections have all contributed to this trend. *
The rapidly evolving areas of molecular diagnostic testing and laboratory-developed testing present coding and billing challenges. These challenges may lead to incorrect coding and improper billing to account for the unique characteristics of these tests. Prenatal and Hereditary cancer tests account for the highest spend.
Prior to January 1, 2013, each step of the process of a molecular diagnostic test was billed utilizing a separate CPT code to describe that process. The billing for these codes was termed “stacking”. CPT implemented updates effective January 1, 2013, to create a more granular analyte and/or gene-specific coding system for these services and to eliminate the “stacking” of codes. The current CPT and HCPCS codes include all analytic services and processes performed with the test (eg. cell lysis, nucleic acid stabilization, extraction, digestion, amplification, and detection). Molecular pathology procedures are medical laboratory procedures involving the analyses of nucleic acid (ie. DNA, RNA) to detect variants in genes that may be indicative of germline (eg. Constitutional disorders) or somatic (eg. Neoplasia) conditions, or to test for histocompatibility antigens (eg. HLA). Code selection is typically based on the specific gene(s) that is being analyzed. The results may require the interpretation by a physician or other qualified healthcare professional. When only the interpretation and report are performed, modifier 26 may be appended to the specific molecular pathology code.
The subgroups of CPT codes include:
- Tier 1– Analyte specific; single test represents a single CPT code; 81105-81364
- Tier 2– Rare disease with low volume molecular pathology services; They are arranged by level of technical resources and interpretive work. 81400-81408
- Proprietary Laboratory Analyses (PLA)– Unique to a single clinical laboratory or manufacturer; 0001U- 0241U
- Multi-Analyte with Algorithmic Analyses (MAAA)– Use of an algorithmic analysis of the various assay results as well as other patient information to generate a report of either a numeric score or probability; 81490-81599, 0002M-0016M
- Genomic Sequencing Procedures (GSPs)– DNA or RNA sequence analysis methods that simultaneously assay multiple genes or genetic regions relevant to a clinical situation. They are performed on nucleic acids from germline or neoplastic samples. 81410- 81471
- 81479– Unlisted molecular pathology procedure; Use when a genetic test is not covered under a Tier 1 or Tier 2 code
Genetic testing is appropriate with specific indications and should provide clinical utility where there is demonstrated application of the test in the management, treatment, or prevention of disease. The complexity of genetic testing requires specialized knowledge to evaluate the quality and necessity of specific tests performed. Even with prior authorization, and clinical criteria met, the coding and billing for the testing must be accurately applied. The billing of multiple CPT codes for a specific test has significantly increased with the Tier 2 and the 81479 codes. CPT codes should not be used to report services that may be reported with a specific PLA code. It has become increasingly more difficult to identify the genetic test billed. Payers have seen a direct correlation between code variation and price variation. Furthermore, payment errors increase administrative expense and raise compliance risks.
Though the current Molecular Pathology code set has been a better solution than the previous “stacking” codes, the rapid growth of this field has made it difficult to stay updated and correlate with which genetic test is being billed. Genetic testing frequently provides a valuable service to a patient who has met clinical criteria and received genetic counseling. It becomes more relevant as we evolve into Precision Medicine. Being knowledgeable on the subgroups of the Molecular Pathology CPT codes, the applicable clinical and reimbursement policies, and coverage determinations reduces the incidence of claim denials and subsequent administrative burden and expense.
*Coding Variability in Genetic Testing. Concert Genetics. September 5, 2019.
Billing and Coding: Molecular Pathology and Genetic Testing. CMS.gov. Article ID A58917; Effective Date: November 8, 2021.