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HelpTest Code ATHAL Alpha Thalassaemia Genotyping
Additional Codes
| Epic Ordering Code | LAB3041046/LAB3040731 |
| NBS code | LBC01650 |
| Service code | 1030142 |
Specimen Requirements
Submit the following:
| Preferred: |
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Purple Top |
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Collection Instructions: Completion of General Consent Form is required for this test. Please submit the completed form along with the sample request form.
Processing Requirements
Specimen type: Whole Blood
Volume: 3.0 mL
Storage/transport requirements: Ambient or refrigerated
Specimen Stability
| Specimen Type | Whole Blood |
| Ambient | 3 days |
| Refrigerate | 7 days |
Specimen Condition
| Clotted, Haemolysed, Frozen | Reject |
| Anticoagulant other than EDTA | Reject |
| Improperly labelled specimen | Reject |
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
Genomics Diagnostic Laboratory, 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.
Update
Last updated 09/07/2026