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
Special Haematology Department St Thomas’ Hospital
Phone – 020 7188 8189
St Thomas’ Hospital
5th Floor – North Wing
Westminster Bridge Road
London SE1 7EHSpecial Haematology Department at Guy’s Hospital
Phone – 020 7188 3421
Guy’s Hospital
4th Floor – Southwark Wing
Great Maze Pond
London SE1 9RTRed Cell Centre – Protein Laboratory
Phone: 020 3299 2455
Email: kch-tr.redcelllab@nhs.net
Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS