AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPTHALMOPLEGIA (ad-PEO) PANEL

POLG1, ANT1, and TWINKLE Sequencing

MITOCHONDRIAL DNA ANALYSIS

Autosomal dominant progressive external ophthalmoplegia (ad-PEO) can be caused by mutations in three nuclear genes, encoding the adenine nucleotide translocator 1 (ANT1), the mitochondrial DNA helicase (TWINKLE) or DNA polymerase gamma (POLG). The mutations in these genes result in progressive accumulation of multiple mtDNA deletions in postmitotic tissues. This test consists of the sequence analysis of the POLG1, TWINKLE, and ANT1 genes.

Reasons for Referral:

Confirmation of a clinical diagnosis
Carrier testing

Testing Methodology:

A PCR-based assay is used to amplify all exons and the immediately adjacent intronic regions of the POLG1, TWINKLE, and ANT1 genes. Direct sequence analysis of PCR products is performed in both the forward and reverse directions using automated fluorescent dideoxy sequencing methods.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adult: 14 cc; Child: 6 cc; Infant: 2-3 cc

Turnaround Time:

5 weeks

CPT Codes and Prices:

83904x60, 83898x30, 83912x3, 83891, 83894x6

Shipping Information

Forms:

>> Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included

Test Codes:

3300