2025 CPT code 81470
(Active) Effective Date: N/A Revision Date: N/A Genetic Testing - Genomic Sequencing Procedures and Other Molecular Multianalyte Assays Pathology and Laboratory Feed
Genomic sequence analysis panel for X-linked intellectual disability (XLID), including at least 60 genes.
Modifiers may apply depending on the circumstances of service. Consult current CPT guidelines for appropriate modifier usage.
Medical necessity is established when the patient's clinical presentation suggests a diagnosis of X-linked intellectual disability, and other diagnostic tests have not provided a definitive diagnosis. The test is medically necessary to aid in diagnosis, genetic counseling, and family planning.
The clinical responsibility lies with the ordering physician who interprets the results and uses them in the clinical management of the patient. The laboratory performs the technical aspects of the test.
In simple words: This lab test looks for genetic changes in many genes linked to X-linked intellectual disability (a condition affecting mostly males). It helps diagnose different types of this disability.
This CPT code (81470) represents a genomic sequence analysis panel for X-linked intellectual disability (XLID).The analysis must include sequencing of at least 60 genes, with a mandatory inclusion ofARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2. The test identifies sequence variations in these genes, which are associated with syndromic and nonsyndromic XLID.This comprehensive panel aids in diagnosing various XLID disorders.
Example 1: A male patient presents with intellectual disability and a family history suggestive of X-linked inheritance.This test is ordered to identify the specific gene mutation causing the disability, allowing for genetic counseling and family planning., A female patient presents with a family history of X-linked intellectual disability but without clear symptoms herself. This test helps determine if she is a carrier, providing valuable information for reproductive decisions., A male patient presents with intellectual disability and other clinical features suggestive of a specific XLID syndrome. The test is performed to confirm the diagnosis, differentiating the syndrome from other conditions with similar symptoms.
Patient's medical history, including family history of intellectual disability or other relevant conditions.Detailed clinical presentation and symptoms of intellectual disability. Results from any prior genetic testing (e.g., karyotype, microarray).Consent form for genetic testing.Information on the specific genes included in the panel.
** The test may reveal variants of uncertain significance (VUS), requiring further investigation and clinical correlation.Results should be interpreted by a qualified medical geneticist.
- Payment Status: Active
- Specialties:Medical Genetics, Clinical Genetics, Neurology, Pediatrics
- Place of Service:Laboratory