SCO2 SEQUENCING
MITOCHONDRIAL DNA ANALYSIS
Also see: Complex IV (COX) Deficiency - SURF1, SCO2, SCO1, and COX10 Sequencing

Description:

Both SCO1 and SCO2 are copper chaperon proteins involved in the transport of copper into the inner mitochondrial membrane and the assembly of cytochrome c oxidase (COX, complex IV of the mitochondrial respiratory chain). Mutations in the SCO2 gene cause severe complex IV deficiency leading to early neonatal onset of hypertrophic cardiomyopathy and encephalopathy.

Reasons for Referral:

To confirm the diagnosis of affected individuals with complex IV deficiency.

Testing Methodology:

The exons and flanking intron regions of SCO2 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: 3 weeks
Known Familial Mutation:2 weeks

CPT Codes and Prices:

Index: 83904x4, 83898x2, 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

References:

1. Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. (1999) Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat. Genet. 23: 333-337.
2. Tay SK, Shanske S, Kaplan P, DiMauro S. (2004) Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Arch. Neurol. 61: 950-952.
3. Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J. (2004) Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta. Paediatr. 93: 1312-1317.

Test Codes:

Index: 3090
Known Familial Mutation:3091
Prenatal: 3092