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Test Code ATHAL Alpha Thalassaemia Genotyping

Important Note

Completion of General Consent Form is required for this test. Please submit the completed form along with the sample request form.

Laboratory Code

LAB3041046

LAB3040731

Specimen Requirements

Specimen Type: Whole Blood
Container/Tube: Lavender Top (EDTA)
Specimen Volume: 3.0 mL

Specimen Stability

7 days, ambient or refrigerated

Methodology

Polymerase Chain Reaction and reverse hybridisation

Days and Times Performed

TAT 14 days

Reference Interval

An interpretative report will be provided.

Testing Laboratory

National University Hospital
Molecular Diagnosis Centre, 67724384

Useful For

The test is useful for the diagnosis of alpha thalassaemia but not useful for the diagnosis of beta thalassaemia or hemoglobinopathies.

 

For detection of common deletional mutations (--SEA, --THAL, --FIL, -α3.7, -α4.2, --MED, and -α20.5), anti-3.7 gene triplication and point mutations (Cd14 (TGG>TAG) and Cd59 (GGC>GAC) (Hb Adana) in HBA1 gene, Inititation Cd (ATG>ACG), Cd19 (-G), IVS1 (-5nt), Cd59 (GGC>GAC), Cd125 (CTG>CCG) (Hb Quong Sze), Cd142 (TAA>CAA) (Hb Constant Spring), Cd142 (TAA>AAA) (Hb Icaria), Cd142 (TAA>TAT) (Hb Pakse), Cd 142 (TAA>TCA) (Hb Koya Dora), Poly A-1 (AATAAA>AATAAG) (Saudi type) and Poly A-2 (AATAAA>AATGAA) (Turkish type)) in the HBA2 gene. 

 

All other variants in the HBA1 and HBA2 genes not listed are not detected by the test.

Service Code

1030142

Update

Last updated 20/03/2025