Hemoglobinopathies – Molecular Genetic Testing – REGINA

Discipline

Genetics and Genomics

Overview

Description

RGH/Pasqua

Overview

  • Molecular testing for hemoglobinopathy investigation, when indicated by hematopathologist review.

Ordering recommendations

  • This molecular genetics test is to support investigations for thalassemias, hemoglobin variants. CBC, hemoglobin electrophoresis, and ferritin results are required before molecular testing can be performed.
    Hematopathologists will initiate reflex molecular testing in indicated cases by attaching a completed Provincial Molecular Genetics Requisition to the hemoglobin electrophoresis printout. 
    HRLMP Test Information
  • The hematopathologist will enter the patient information, relevant clinical/laboratory indication, and their own ordering physician details on the requisition. The requisition will be handed to Special Chemistry. 
  • The technologist will enter the patient name, HSN, date of birth, and collection/received date and time. 
  •  The technologist will order LIS code “GRHGB”, label the sample and requisition, and attach CBC results, hemoglobin electrophoresis results, gel electrophoresis results if applicable, and iron studies to the requisition. The sample and requisition will then be given to the Accession Department.

RRPL

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

Alias

RRPL

  • 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

RGH/Pasqua

  • Whole blood: Lavender (EDTA) 4.0 mL (one tube)
  •  In the neonate and pediatric setting 0.5 mL EDTA accepted.

RRPL

  • Whole blood: Lavender (EDTA) 4.0 mL

Specimen collection container

RRPL, RGH/Pasqua

  • Preferred collection container: Lavender (EDTA) 4.0 mL
  • Alternative collection container: Microcollection - EDTA

Collection procedure

RGH/Pasqua

  • No special handling is required. The sample may be collected at any collection site in Saskatchewan.

Required volume

RGH/Pasqua

  • Optimal volume: 4 mL
  • Minimum volume: 0.5 mL (Pediatric volume)

RRPL

  • 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

RGH/Pasqua

  • Hemoglobinopathy EDTA samples are currently retained for 3 months in refregerator.
    Room temperature: if being shipped on same day of collection (preferred).
  • Refrigerated: If shipping is delayed.

RRPL

  • 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

Testing Information

Relevant clinical history

RGH/Pasqua

Patient history 

  • Relevant clinical history and laboratory findings should be provided, including CBC, iron studies, and hemoglobin electrophoresis results suggestive of a hemoglobinopathy.

Performance

Methodology

RGH/Pasqua

  • Purpose: To confirm or clarify suspected thalassemia or hemoglobin variants when routine hemoglobinopathy testing is insufficient to finalize the diagnosis.
  • Method: Targeted Polymerase chain reaction (PCR) or Direct Sequence Analysis performed at the Hamilton molecular laboratory.

RRPL

  • 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. 

Days/times performed

Availability

RGH/Pasqua

  • Referred-out test to the Hamilton molecular laboratory. 
  • Specimens may be batched and shipped weekly. 
  • This is an add-on/reflex test to the hemoglobinopathy investigation when indicated by hematopathology review. 
  • A new collection is not required as the retained EDTA specimen is available and suitable for molecular testing.

Maximum laboratory time

RGH/Pasqua

Results reporting

  • The hematopathologist will review the molecular genetics result once received and finalize/update the Laboratory Information System (LIS) report as an integrated hemoglobinopathy report.

Specimen retention time

RGH/Pasqua

  • Hemoglobinopathy EDTA samples are retained for 3 months.

RRPL

Other information

RGH/Pasqua

Additional resources

Last Updated: September 2, 2026