Lab Information Manual

Laboratory:

Genomics

Test Name:

HEMOGLOBIN VARIANTS (HbE, HbD, Hb Constant Spring, HbQ Thail, Hb Quong Sze, and others) HBB, HBA GENE - (B)

Test Code: MD

Clinical Information:

Hemoglobinopathy investigation is required prior to or concurrently with molecular diagnostic testing.

Testing for clinical confirmation of a Positive Newborn screen when suspecting a clinically significant Hemoglobinopathy.

Targeted Variants assessed are (HbE c.79G>A, HbD c.364G>C and HbO arab c.364G>A) among others.

Testing for carrier status is restricted to Medical Genetics for reproductive risk assessment in couples with abnormal hemoglobinopathy.

Testing of symptomatic patients is restricted to hematologists or appropriate specialist.

Prenatal diagnosis is limited to Medical Genetics.

For more information see:
Beta-Thalassemia - GeneReviews® - NCBI Bookshelf (nih.gov)

Alpha-Thalassemia- Genereviews

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:

2 - 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

- Note: Quantity is 2-6

Note that extracted DNA samples can only be accepted from accredited laboratories. For prenatal diagnosis, contact laboratory Genetic Counsellors for prior approval and to obtain specimen requirements. Contact Lab Genetic Counsellor at GenomicsLabGC@sharedhealthmb.ca or ph:204-787-4033 with any questions.

Specimen Required:

Whole Blood: 8.0 mL

Pediatric Whole Blood: 3.0 mL

Specimen Handling: Do NOT centrifuge. Forward specimens to Health Sciences Centre MS551.

Preferred - Store and ship specimens at room temperature.

Refrigerated: Accepted

Frozen: Accepted - must remain frozen.

Specimens sent for Molecular tests are not to be used for other tests (i.e., CBC).

Referral:

Requisition:

_SH Molecular Diagnostic Laboratory Out of Centre Genetic Test Requisition (R250-10-103)

Reference Values:

Reference Intervals: An interpretive report will be sent.

Availability:

Prenatal diagnosis and expedited testing available- 2 Week. Please consult the laboratory Genetic Counsellors. Availability: As per referral laboratory.