Alpha and Beta gene MLPA (for large deletions and insertions)

Description: 
MLPA analysis for large deletions and insertions in the beta and alpha globin gene (HPFH, delta beta thalassaemia, 619 deletion, rare alpha globin gene deletions and increased copy numbers).
Clinical details: 
Investigation of raised haemoglobin F, low red cell indices when common mutations have been excluded.
Reference range: 

n/a

Synonyms or keywords: 
HPFH, Hereditary persisance of fetal Haemoglobn screen, Delta beta thalassaemia, Large beta gene mutations, large beta gene deletions, 619bp deletion, alpha thalassaemia.
Units: 
N/A
Sample type and Volume required: 
Whole Blood
Turnaround time: 
20 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.
Storage and transport: 
EDTA
Time limit for extra tests: 
7 days after sample collection
Contacts:
Special Haematology Department at Guy's and St Thomas' Hospital
St Thomas’ Hospital
5th Floor - North Wing
Westminster Bridge Road
London SE1 7EH
Telephone - 0207 188 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):
jo.howard@gstt.nhs.uk and rachel.kesse-adu@gstt.nhs.uk
Monday - Friday 09:00 - 17:00 (paediatric): baba.inusa@gstt.nhs.uk and maria.pelidis@gstt.nhs.uk
Red Cell Laboratory at Guy's and St Thomas' Technical Advisory Service
Monday - Friday 09:00 - 17:00
yvonne.daniel@viapath.co.uk
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 11/01/2021