Description:

COX10 is an assembly factor essential for the biogenesis of Complex IV (CIV or COX, cytochrome c oxidase of the mitochondrial respiratory chain). COX10 catalyzes the farnesylation of protoheme (heme B) to form heme O, which is in turn converted to heme A, one of the prosthetic groups critical to COX function. Pathogenic mutations have been reported in patients with isolated complex IV deficiency and heterogeneous clinical phenotypes. Tubulopathy and leukodystrophy were reported in one family. Another patient presented with anemia and classic Leigh syndrome, and a third patient with anemia, sensorineural hearing loss and fatal infantile hypertrophic cardiomyopathy.

Reasons for Referral:

• To confirm a clinical diagnosis of affected individuals.

Testing Methodology:

The exons and flanking intron regions of COX10 gene are PCR amplified and sequenced.

Specimen Requirements:

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

Turnaround Time:

Index: 4 weeks
Known Familial Mutation: 2 weeks

CPT Codes and Prices:

Index: 83904x10, 83898x5, 83912, 83891, 83894x2
Known Familial Mutation: 83904x4, 83898x2, 83912, 83891, 83894x2

Shipping Information

Forms:

>> Gene Sequencing Requisition or Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included
>> Prenatal Requisition

Test Codes:

Index: 3100
Known Familial Mutation: 3101
Prenatal: 3102

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-6584
E-mail: