Alpha Thalassaemia Molecular Screen
- Description
- The GAP-PCR assay screens for the seven common mutations of alpha thalassaemia including 3.7Kb and 4.2Kb alpha plus thalassaemia deletions, 20.5Kb, SEA, MED, THAI and FIL alpha zero deletions and the triplicated 3.7Kb alpha gene.
- Clinical details
Alpha thalassaemia screen, HbH disease
- Related condition
- Reference range
n/a
- Units
n/a
- Synonyms
ATHAL, alpha genotyping, alpha thalassaemia screen, molecular analysis for common alpha thalassaemia mutations
- Testing site
- Synnovis : Blood Sciences : Blackfriars Hub
- Laboratory
- Red Cell
- Sample type and volume required
Whole blood collected into EDTA. The minimum acceptable volume is 1mL. Genomic DNA is also accepted, the minimum acceptable volume of DNA is 20uL For all samples sent please ensure that the patient has given appropriate consent for:
1. Analysis of DNA for diagnostic purposes.
2. Indefinite storage of DNA.
3. Use of anonymous DNA as control samples.
- Special sample instructions
Samples referred in from other laboratories must come with a completed referral request form. See the further info tab for a PDF copy of the form.
- Storage and transport
Samples should be stored refrigerated if not being transported immediately. Please send samples within 7 days of venepuncture. Samples may be transported at ambient temperature.
- Turnaround time
10 working days from point of test request or add on of this test. For complex cases where additional tests are required, each additional test request will add to the total turnaround time. Please contact laboratory to discuss urgent requests.
- Contacts
Specialist Red Cell Laboratory
Phone – 020 4591 0045
Synnovis Hub
Floor 2
Friars Bridge Court
41-43 Blackfriars Road
London SE1 8NZ