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HelpTest Code GENEA Gene-mapping (Alpha-Thalassaemia, prenatal)
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: 10-15mL
Specimen Type: Chorionic villi
Container/Tube: Transport media provided by Laboratory (10mL )
Specimen Volume: 20 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: 3mL
Parents:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3mL
Days and Times Performed
Bimonthly, TAT 10 working days (Up to 20 working days if culturing of amniotic cells is required)
Methodology
GAP – Polymerase Chain Reaction, DNA sequencing
Service Code
1030114
Update
Last updated 03/04/2019
Specimen Stability
| Whole blood | 7 days, ambient or refrigerated |
|---|---|
| Amniotic fluid | Refrigerated (preferred)/Ambient |
| Chorionic villi | Refrigerated |
| Confluent cultured cells | Ambient (preferred)/Refrigerated |
| Fetal blood | Ambient (preferred)/Refrigerated |
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
Reference
An interpretative report will be provided.