Hemoglobinopathies – Molecular Genetic Testing – RRPL
Discipline
Genetics and Genomics
Overview
Description
Ordering recommendations
- This molecular genetics test is to support investigations for thalassemias, hemoglobin variants and Sickle Cell Disease. CBC, Hemoglobin electrophoresis, and ferritin results are required before molecular testing can be performed.
Ordering requirements
- This test has been pre-approved for select medical specialties as indicated (Physician Approval to Order)
- Other physicians may inquire about getting their patient tested through the Genetics Resource Centre process
- Rush/urgent cases must be indicated on the requisition along with an e-mail to RRPLMolecularGenetics@saskhealthauthority.ca
- If this test will impact an ongoing pregnancy, also fax an urgent referral to the division of medical genetics: 306-655-1736 (otherwise see Genetic Resource Centre process)
Alias
- Alpha Thalassemia, H disease, Hb Barts, Constant Spring, alphahydrops, HBA1, HBA2, Beta Thalassemia, Hb Lepore, Hereditary Persistence of Fetal Hemoglobin, HPFH, delta-beta thalassemia, HBB, HBD, HBGH, HbE, HbS, Sickle, HbC, HbE, HbD, alpha variant, beta variant, hemoglobinopathy, HBG1, HBG2
Specimen Information
Specimen types accepted
- Whole blood: Lavender (EDTA) 4.0 mL
Specimen collection container
- Preferred collection container: Lavender (EDTA) 4.0 mL
- Alternative collection container: Microcollection - EDTA
Required volume
- Optimal volume: 8 mL
- Minimum volume: 0.5 mL
- Pediatric volume: 0.5-3 mL
EDTA tubes should be completely full, 2/3 full at minimum, testing may be affected by partial draw
- For patients over 20 kg: 2 EDTA tubes each containing 3.0 mL of blood
- For patients up to 20 kg: 2 EDTA tubes each containing 2.0 mL of blood
- For neonates: 1 EDTA containing a minimum of 0.5 mL of blood
Transport and stability
- Specimen specific storage and transport instructions (ex. Frozen, ship on ice, temperature specification)
- Room temperature: if being shipped on same day of collection (preferred).
- Refrigerated: If shipping is delayed
Performance
Methodology
- Purpose of test (brief): To provide molecular genetic confirmations of provisional diagnoses such as sickle cell disease and thalassemias. More often used in conjunction with hematologic features suggestive of aberrant hemoglobins.
- How testing is performed: Referred out. Targeted PCR and Direct Sequence Analysis
- Clinical result interpretations: Interpretation provided on report.
Specimen retention time
- For more information, please visit the RRPL Requisitions and Completion Aids page.
Last Updated: April 2, 2024