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) subunits. Mutations in the SCO1 gene have been reported in a patient with severe complex IV deficiency and neonatal onset of hepatic failure 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 SCO1 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:83904x12, 83898x6, 83912, 83891, 83894x2
Known Familial Mutation: 83904x4, 83898x2, 83912, 83891, 83894x2

References:

1. Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A. (2000) Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am. J. Hum. Genet. 67: 1104-1109.
2. Williams JC, Sue C, Banting GS, Yang H, Glerum DM, Hendrickson WA, Schon EA. (2005) Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein. J. Biol. Chem. 280: 15202-15211.

Shipping Information

Forms:

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

Test Codes:

Index: 3095
Known Familial Mutation: 3096
Prenatal: 3097

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