Lab Information Manual

Laboratory:

Genomics (MOLECULAR DIAGNOSTICS)

Test Name:

Hemoglobin C, Hb C Variant in HBB - (B)

Test Code: MD

Clinical Information:

Hemoglobinopathy investigation is required before molecular diagnostic testing. Targeted molecular confirmation variant associated with Hb C, HBB c.19G>A, p.Glu6Lys 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:

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

- 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

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) Within 12 Weeks. Expedited testing is available when clinically indicated and may be referred out at the discretion of the laboratory director.