ATPase SUBUNITS
MITOCHONDRIAL DNA ANALYSIS

Description:

Mitochondrial disorders may be due to mutations in the mitochondrial DNA encoded genes ATPase subunits 6 and 8. The most common mutations are 8993T>G and 8993T>C, responsible for Leigh disease and NARP (Neuropathy, ataxia, retinitis pigmentosa) syndrome. Sequencing of ATPase subunits may reveal other pathogenic mutations.

Reasons for Referral:

To confirm the diagnosis of mitochondrial disease caused by mutations in mitochondrial genes encoding ATPase subunits.

Testing Methodology:

The mitochondrial genes encoding ATPase 6 and ATPase 8 subunits are PCR amplified and sequenced.

Sensitivity:

In general, sequence analysis does not detect low mutant heteroplasmy. Sometimes heteroplasmy <50% may not be detected.

Specimen Requirements:

100 mg of tissue or blood.
Tissue: strongly prefer skeletal muscle; heart, brain, liver, kidney or fibroblast cultures also accepted.
Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child: 6 cc; Infant: 2-3 cc

Turnaround Time:

Index: 3 weeks
Known Familial Mutation: 2 weeks

CPT Codes and Prices:

Index: 83904x4, 83898, 83912, 83891
Known Familial Mutation: 83904x4, 83898x2, 83912, 83891, 83894x2

Shipping Information

Forms:

>> Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included

Test Codes:

Index: 3045
Known Familial Mutation: 3046