Alpha Thalassaemia Molecular Screen

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
Reference range: 


Synonyms or keywords: 
ATHAL, alpha genotyping, alpha thalassaemia screen, molecular analysis for common alpha thalassaemia mutations
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.
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.
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.
Special Haematology Department at Guy's and St Thomas' Hospital
St Thomas’ Hospital
5th Floor - North Wing
Westminster Bridge Road
London SE1 7EH
Telephone - 020 7188 8189

Guy’s Hospital
4th Floor - Southwark Wing
Great Maze Pond
London SE1 9RT
Telephone - 020 7188 3421

Red Cell Laboratory at Guy's and St Thomas' Clinical Advisory Service
Monday - Friday 09:00 - 17:00 (adult): and
Monday - Friday 09:00 - 17:00 (paediatric):
Red Cell Laboratory at Guy's and St Thomas' Technical Advisory Service
Monday - Friday 09:00 - 17:00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

Print as a PDF

Last updated: 01/11/2022