Test Code ATHAL Alpha Thalassaemia Genotyping
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.