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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.

Specimen Requirements

Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3mL

Days and Times Performed

Bimonthly, TAT 10 working days.

Methodology

Multiplex gap-Polymerase Chain Reaction and DNA sequencing

Service Code

1030142

Update

Last updated 03/04/2019

Specimen Stability

7 days, ambient or refrigerated

Testing Laboratory

National University Hospital
Molecular Diagnosis Centre, 67724384

Useful For

For detection of common deletional mutations (--SEA, --THAL, --FIL, -α3.7, -α4.2, --MED, and -α20.5) and the more common point mutations (Hb Quong Sze, Hb Constant Spring, α2 codon 30 del GAG, Hb Adana and poly A tail) in the α-globin gene. 

Reference

An interpretative report will be provided.