COMPLEX IV (COX) DEFICIENCY

FASTKD2 (Fas Activated Serine-Threonine Kinase Domain 2) protein is localized in the inner mitochondrial membrane. The first mutation in this gene was recently identified in a consanguineous family with two affected siblings who had mitochondrial encephalomyopathy characterized by developmental delay, hemiplegia, convulsions, and asymmetrical brain atrophy. The disease was associated with cytochrome c oxidase deficiency in skeletal muscles. The FASTKD2 gene maps to 2q33.3. It consists of 12 exons and encodes a protein of 694 amino acids. The protein is speculated to play a role in apoptosis.

Reasons For Referral:

• Confirmation of clinical diagnosis
• Carrier testing

Testing Methodology:

The exons and flanking intronic regions of the FASTKD2 gene are PCR amplified and sequenced in both forward and reverse directions.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adults: 14 cc; Child: 6 cc; Infant: 2-3 cc
Requisition form must accompany the specimen. To receive forms, additional information or specimen collection kits, please contact the laboratory.

Turnaround Time:

Index: 4 weeks
Known Familial Mutation: 2 weeks

CPT Codes and Prices:

Index: 83891, 83904x24, 83909x24, 83898x12, 83912, 83894x2
Known Familial Mutation: 83891, 83904x2, 83909x2, 83898, 83912, 83894

Shipping Information

Forms:

>> Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included

References:

1. Ghezzi, D. et al (2008). FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 83, 415-23.

Test Codes:

Index: 3555
Known Familial Mutation: 3556

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-2787
E-mail: