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Test Code BTHAL Beta 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.

Additional Codes

Epic Ordering Code LAB3040975/LAB3040731
NBS code LBC02994
Service code 1030143

Specimen Requirements

Submit the following: 

 

Preferred:

Purple Top

Specimen Stability

Specimen Type Whole Blood
Ambient 7 days
Refrigerate 7 days

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 10/06/2026

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.

Processing Requirements

Specimen type: Whole Blood

Volume: 3.0 mL 

Storage/transport requirements: Ambient or refrigerated