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Laboratory:

Genomics (MOLECULAR DIAGNOSTICS)

Test Name:

Hemoglobin S (Sickle Cell) Hb S Variant in HBB

Test Code: MD

Clinical Information:

Hemoglobinopathy investigation is required before molecular diagnostic testing. Testing to confirm diagnosis after a positive Newborn screen. Targeted molecular confirmation of Sickle Cell variant, HBB c.20A>T, p.Glu6Val as suggested by the hemoglobinopathy investigation.

Couple-based reproductive risk assessment for clinically significant hemoglobinopathies is recommended.

Confirmation of clinical diagnosis is limited to an appropriate specialist. Carrier testing is limited to Medical Genetics for couple-based reproductive risk assessment. Prenatal diagnosis is limited to Medical Genetics.

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 - Quantity: 2-6 Note that extracted DNA samples can only be accepted from accredited clinical laboratories. For prenatal diagnosis, contact the laboratory 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

Pediatric Volume: 1-3 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

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

Referral:

Requisition:

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

Reference Values:

Reference Intervals: An interpretive report will be sent.

Availability:

Availability: Turnaround time (TAT) As per referred out laboratory.