2025 CPT code 81460
(Active) Effective Date: N/A Revision Date: N/A Pathology and Laboratory - Genomic Sequencing Procedures and Other Molecular Multianalyte Assays Pathology and Laboratory Procedures Feed
Genomic sequencing of the entire mitochondrial genome, including heteroplasmy detection.
Modifiers may be applicable based on the circumstances of service (e.g., modifier 59 for distinct procedural service).
Medical necessity is established based on the patient's clinical presentation, family history, or suspicion of a mitochondrial disorder. The test is considered medically necessary when the information obtained is critical for diagnosis, treatment planning, and prognosis.
A laboratory analyst performs the genomic sequencing, analyzes the data, and generates a report.A physician interprets the results in relation to the patient's clinical presentation.
- Pathology and Laboratory Procedures
- Genomic Sequencing Procedures and Other Molecular Multianalyte Assays
In simple words: This lab test analyzes all of the genetic material (DNA) in the mitochondria, the energy-producing parts of your cells.It checks for any errors or changes in this DNA and if some of your mitochondrial DNA is normal while some is abnormal (heteroplasmy). This test helps doctors diagnose conditions impacting nerves and muscles.
This CPT code encompasses genomic sequencing of the entire mitochondrial genome.The procedure includes the analysis of the complete mitochondrial DNA sequence and incorporates heteroplasmy detection, identifying variations in mitochondrial DNA where some mitochondria possess a mutation while others remain normal.The test utilizes next-generation sequencing (NGS) or other appropriate molecular techniques to determine the nucleotide sequence. Results are compared to a reference genome to identify variants associated with various conditions, particularly those affecting nerve and muscle function (e.g., Leigh syndrome, MELAS, MERFF, NARP, LHON).
Example 1: A patient presents with unexplained muscle weakness and neurological symptoms.The physician orders this test to investigate the possibility of a mitochondrial disorder., A family history of mitochondrial disease prompts genetic screening for a child showing mild developmental delays.This test is utilized to assess mitochondrial DNA for causative variants., A patient with suspected Leigh syndrome undergoes genomic sequencing of the entire mitochondrial genome to confirm the diagnosis and guide treatment decisions.
* Patient demographics and clinical history.* Detailed description of the reason for ordering the test.* Specimen type and collection date.* Report of the genomic sequencing results, including the detected variants and their interpretation.
** This code includes analysis of heteroplasmy.Results should be interpreted in the context of the patient's clinical presentation and other relevant laboratory findings.
- Payment Status: Active
- Modifier TC rule: Not applicable.
- Specialties:* Clinical Genetics* Neurology* Medical Genetics* Pathology
- Place of Service:Laboratory