Pathology/Lab Coding Alert

AMA code descriptors acknowledge people-first language.

In 2010, Congress passed Rosa’s Law, which replaced the words “mental retardation” with “intellectual disability” in specific federal laws. In the newly announced 2024 CPT^® code releases, the AMA revised nine CPT^® codes to now align with the use of people-first language. At the same time, CPT^® added new molecular pathology codes for solid organ neoplasm analysis and cell-free nucleic acid interrogation assays.

Read on to learn about the code revisions and additions, why the AMA made them, and how they could affect your coding moving forward.

Make Note of These Code Revisions

The following molecular pathology codes received updated descriptors in the 2024 CPT^® code set:

• 81171 (AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles)
• 81172 (AFF2 (ALF transcription elongation factor 2 [FMR2]) (eg, fragile X intellectual disability 2 [FRAXE]) gene analysis; characterization of alleles (eg, expanded size and methylation status))
• 81243 (FMR1 (fragile X messenger ribonucleoprotein 1) (eg, fragile X syndrome, X-linked intellectual disability [XLID]) gene analysis; evaluation to detect abnormal (eg, expanded) alleles)
• 81244 (FMR1 (fragile X messenger ribonucleoprotein 1) (eg, fragile X syndrome, X-linked intellectual disability [XLID]) gene analysis; characterization of alleles (eg, expanded size and promoter methylation status))
• 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) …)
• 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) ACADS (acyl-CoA dehydrogenase, C-2 to C-3 short chain) (eg, short chain acyl-CoA dehydrogenase deficiency), targeted sequence analysis (eg, exons 5 and 6) …)
• 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) …)
• 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) …)

Code Correctly for Fragile X Syndrome Tests

If a clinician is ordering full FMR1 gene sequencing for a symptomatic patient suspected to have a Fragile-X syndrome diagnosis, the appropriate CPT^® codes to bill are 81243 and 81244. Tier 1 code 81243 is specific to gene sequencing for the detection of abnormal alleles in FMR1, whereas you would use 81244 to describe a complementary assay used in the assessment of allele expansion size and methylation status of FMR1. Mutations in the FMR2 gene are not as commonly found in the general population as FMR1; therefore, you need to make sure you bill the correct CPT^® codes to accurately reflect the medically necessary testing being performed.

Stay Focused on These Single Gene Tests

The code descriptor updates also apply to single gene tests coded with Tier 2 CPT^® codes that are found in patients presenting in clinics with intellectual disability.

• Mutations in the ARX gene, detected with a procedure coded to 81403, are known to be associated with developmental delays, intellectual disability, epileptic encephalopathy, and infantile spasms.
• Mutations in the FTSJ1 gene, detected with a procedure coded to 81406, are associated with non-syndromic forms of intellectual disability.
• Mutations in the KDM5C gene, detected with a procedure coded to 81407, are associated with X-linked intellectual disability, autism, and aggressive behavior in males.

Add These New MoPath Codes for Oncology Genetic Testing

The 2024 CPT^® updates also contain three new codes which will be available for solid organ neoplasm analysis and three new codes for cell-free nucleic acid interrogation assays.

Solid organ neoplasm testing is targeted towards identifying DNA sequence variants which can impact diagnosis and treatment for cancer patients. New codes for these tests include:

• 81457 (Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis, microsatellite instability)
• 81458 (Solid organ neoplasm, genomic sequence analysis panel, interrogation for sequence variants; DNA analysis, copy number variants and microsatellite instability)
• 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)

Cell-free nucleic acid interrogation assays detect cell-free DNA alterations in human plasma rather than solid organ neoplasms. They are also used in clinical practice for the management and treatment of cancer patients. New codes to capture these tests include:

• 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)
• 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)
• 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)

When billing CPT^® codes for solid tumor or cell-free nucleic acid testing, you should consider which elements of the assay are being performed. Each of the new oncology code descriptors differ slighting from a genetic testing perspective, and these subtle differences should be captured when selecting the most appropriate code. As genetic testing becomes more advanced, it may require ongoing provider education and training in these new technologies for a better understanding about what is being performed at the laboratory level. Working with a trusted laboratory and engaging in accurate and compliant coding practices will help healthcare teams appropriately select the right genetic testing for the patient at the right time in their care management pathway.

                                                                       Stephanie Gandomi, MS, MBA, LCGC Contributing Writer, Kailua-Kona, Hawaii