COMPLEX IV (COX) DEFICIENCY

COX15 Sequencing

MITOCHONDRIAL DNA ANALYSIS

Also see: Complex IV (COX) Deficiency - SURF1, SCO2, SCO1, and COX10 Sequencing; Complex IV (COX) Deficiency - COX6B1 Sequencing; 3555 - Complex IV (COX) Deficiency - FASTKD2 Sequencing

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COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN 15), is an accessory protein important for the biogenesis of cytochrome c oxidase, it is involved in the synthesis of heme A, the heme prosthetic group for cytochrome C oxidase. COX15 contains a mitochondrial leader peptide which targets the protein to the mitochondria and 5 transmembrane domains. The COX15 locus maps to 10q24.2 and encodes the COX15.1 and COX15.2 isoforms, which have different C termini. Cox 15 mutations have been reported in patients with autosomal recessive infantile hypertrophic cardiomyopathy or Leigh syndrome with cytochrome C oxidase deficiency.

Reasons for Referral:

Confirmation of a clinical diagnosis
Carrier testing

Testing Methodology:

The exons and flanking intronic regions of the COX15 gene are PCR amplified and sequenced in both the forward and reverse directions.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: Adult: 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: 83912, 83894, 83891, 83898x9, 83904x18, 83909x18
Known Familial Mutation: 83912, 83894, 83891, 83898, 83904x2, 83909x2

Shipping Information

Forms:

>> Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included

References:

Antonicka, H. et al. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet. 72:, 101-14 (2003).
Bugiani, M., Tiranti, V., Farina, L., Uziel, G. & Zeviani, M. Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J. Med. Genet. 42: e28 (2005).
Oquendo, C.E., Antonicka, H., Shoubridge, E.A., Reardon, W. & Brown, G.K. Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J. Med. Genet. 41: 540-4 (2004).

Test Codes:

Index: 3545
Known Familial Mutation: 3546