Laboratory: Genomics
Test Name:
BOWEN-CONRADI SYNDROME (BCS) - EMG1 GENE - (B)
Test Code: MD
Clinical Information:
Only one mutation, c.257A>G(p.Asp86G1y), in the EMG1gene is tested for.  This mutation is found in the Hutterite population.
Collection Devices:
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 2 Weeks
See Also:
More Information:
Do NOT centrifuge.  Specimen is forwarded to Health Sciences Centre - MS5 for analysis.  Store and ship specimens at room temperature.  Specimen sent for Molecular tests is not to be used for other tests (ie. CBC).
EDTA 4 mL NO GEL Tube(s) - Full Tube Collection
Manufacturer: Becton Dickinson & Company

Catalogue #: 367861