COMPLEX I DEFICIENCY
C6ORF66 (HRPAP20) Sequencing
MITOCHONDRIAL DNA ANALYSIS

Description:

C6ORF66 (chromosome 6 open reading frame 66), also known as HRPAP20 (hormone-regulated proliferation-associated protein, 20-KD), is a phosphoprotein that is required for proliferation and survival of hormone-dependent tumor cells. C6ORF66 maps to chromosome 6q16.1. The 3 coding exons predict a protein of 175 amino acids. Although encoded by the nucleus, the C6ORF66 protein localizes to the mitochondria. The first 34 residues are predicted to comprise the mitochondrial targeting sequence. C6ORF66 appears to function as a complex I assembly factor. Mutation of C6ORF66 was detected in a patient who presented with reduced fetal movement, antenatal cardiomyopathy, and lactic acidemia. The levels of the C6ORF66 protein and of the fully assembled complex I were markedly reduced in the patient’s muscle specimen.

Reasons for Referral:

Confirmation of a clinical diagnosis
Carrier testing

Testing Methodology:

The exons and flanking intronic regions of the C6ORF66 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: 3 weeks

CPT Codes and Prices:

Index: 83891, 83904x6, 83898x3, 83912, 83894x2
Known Familial Mutation: 83904x4, 83898x2, 83912, 83891, 83894x2

Shipping Information

Forms:

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

References:

1. Saada A, Edvardson S, Rapoport M, et al. C6ORF66 Is an Assembly Factor of Mitochondrial Complex I. Am. J. Hum. Genet. 2008; 82, 32–38.
2. Karp CM, Pan H, Zhang M, Buckley DJ, Schuler LA, Buckley AR. Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells. Cancer Res. 2004; 64(3): 1016-25.

Test Codes:

Index: 3480
Known Familial Mutation: 3481