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HelpTest Code BTHAL Beta Thalassaemia Genotyping
Additional Codes
| Epic Ordering Code | LAB3040975/LAB3040731 |
| NBS code | LBC02994 |
| Service code | 1030143 |
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
DNA sequencing
Days and Times Performed
TAT 21 days
Reference Interval
An interpretative report will be provided.
Testing Laboratory
National University Hospital
Genomics Diagnostic Laboratory, 67724384
Useful For
For detection of common point mutations in the β-globin gene.
Beta thalassaemia caused by large deletions of the HBB gene, delta-beta thalassaemia and Hb Lepore are not included in this investigation.
Update
Last updated 09/07/2026
Test Info
(a) This test was developed by NUH Laboratory Medicine.
(b) This laboratory test has undergone in-house evaluation with appropriate quality assurance and control measures in line with laboratory best practice and accreditation requirements.