Lab Information Manual

Laboratory:

Genomics

Test Name:

HEMOGLOBIN VARIANTS - HBB GENE, HBA1 GENE, HBA2 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 carry a clinical significant hemoglobin variant (ie. HbS, HbC, HbE, HbD) on hemoglobinopathy investigations AND partner has abnormal findings on hemoglobinopathy investigations. Couple-based testing recommended. Testing is indicated for patients (regardless of age) with unknown hemoglobin variants identified during hemoglobinopathy investigations. Testing generally restricted to medical geneticists and hematologists. For more information, see
http://www.ncbi.nlm.nih.gov/books/NBK1426/ , http://www.ncbi.nlm.nih.gov/books/NBK1377/ and http://www.ncbi.nlm.nih.gov/books/NBK1435/

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 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.