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Laboratory:

Genomics

Test Name:

CEREBRO-OCULO-FACIO-SKELETAL SYNDROME (COFS) - (B)

Test Code: MD

Clinical Information:

Only one mutation, 3794delAA, in the ERCC6 (CSB) gene is tested for. This mutation is found in the western Manitoba Aboriginal population.

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Blood: 8.0 mL

Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only.

Referral:

Requisition:

Reference Values:

An interpretive report will be sent.

Availability:

Within 4 Weeks