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HelpTest Code GENEB Gene-mapping (Beta-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
Polymerase Chain Reaction, DNA Sequencing, Pyrosequencing
Service Code
1030118
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 beta-thalassaemia carriers and their unborn fetus. Detection includes common point mutations in the beta-globin gene
Reference
An interpretative report will be provided.