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Laboratory:

Genomics

Test Name:

BETA THALASSEMIA - HBB GENE - (B)

Test Code: MD

Clinical Information:

Hemoglobinopathy investigation is required prior or concurrently with molecular diagnostic testing. Testing is indicated for patients of reproductive age (15-45 years of age) that are identified on hemoglobinopathy investigations as β-thal trait AND partner has abnormal findings on hemoglobinopathy investigations. Couple-based testing is recommended. Testing generally restricted to medical geneticists and hematologists. For more information, see
http://www.ncbi.nlm.nih.gov/books/NBK1426/ and
http://www.ncbi.nlm.nih.gov/books/NBK1377/

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:

Whole Blood: 8.0 mL

Pediatric Whole Blood: 3.0 mL

Keep specimen at room temperature. Pediatric volume for infants only. For prenatal diagnosis, contact laboratory for prior approval and to obtain specimen requirements.

Referral:

Requisition:

_SH HSC Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report from the referral laboratory will be forwarded to the physician.

Availability:

Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 8 to 10 weeks. Expedited turnaround time, where medically indicated, available upon request.