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HelpTest Code GENEA Gene-mapping (Alpha-Thalassaemia, prenatal)
Laboratory Code
LAB3040636
Specimen Requirements
Unborn fetus:
Submit only one of the following depending on the gestation age:
Specimen Type: Amniotic Fluid
Container/Tube: Sterile Plain Container
Specimen Volume: 10.0 - 15.0 mL
Specimen Type: Chorionic Villi
Container/Tube: Transport media provided by Laboratory (10.0 mL )
Specimen Volume: 20.0 mg
Transport medium is provided for chorionic villus upon request
Specimen Type: Confluent Cultured Cells
Container/Tube: T-25 flask
Specimen Volume: 2 flasks
Specimen Type: Fetal Blood
Container/Tube: Lavender Top (EDTA)
Specimen Volume: 3.0 mL
Parents:
Specimen Type: Whole Blood
Container/Tube: Lavender Top (EDTA)
Specimen Volume: 3.0 mL
Specimen Stability
| Whole Blood | 7 days, ambient or refrigerated |
|---|---|
| Amniotic Fluid | Ambient / Refrigerated (preferred) |
| Chorionic Villi | Refrigerated |
| Confluent Cultured Cells | Ambient (preferred) / Refrigerated |
| Fetal Blood | Ambient (preferred) / Refrigerated |
Methodology
GAP – Polymerase Chain Reaction, DNA sequencing
Days and Times Performed
TAT 1 month
Reference Interval
An interpretative report will be provided.
Testing Laboratory
National University Hospital
Molecular Diagnosis Centre, 67724384
Useful For
This is a package test for both parents who are alpha-thalassaemia carriers and their unborn foetus. Detection includes common deletional mutations (-SEA, -THAL, -FIL, -3.7, -_4.2, -MED, and -20.5) and the more common point mutations (Hb Quong Sze, Hb Constant Spring, Alpha2 Codon 30 del GAG, Hb Adana and poly A tail) in the alpha-globin gene
Service Code
1030114
Update
Last updated 20/03/2025