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.
Related condition or disease: 
HPFH, raised HbF, beta thalassaemia, delta beta thalassaemia, alpha thalassaemia.
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
Department: 
Special Haematology Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
Whole blood in EDTA.
Required volume is variable as multiple confirmation tests may be required. The minimum acceptable volume of whole blood 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: 
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.
Special sample instructions: 

Referred in samples must be fully labelled and accompanied with a completed referral request form.  A copy of the referral form can be located in the FURTHER INFO tab.  Please provide the FBC result, family origins and HPLC or Capillary electrophoresis plot.

Criteria for acceptance / rejections of sample
Storage and transport: 
Blood should be stored at 4°C where possible and may be transported at ambient temperature.
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 - 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):
rachel.kesse-adu@gstt.nhs.uk and Kate.Gardner1@gstt.nhs.uk
Monday - Friday 09:00 - 17:00 (paediatric): Samah.Babiker@gstt.nhs.uk
Red Cell Laboratory at Guy's and St Thomas' Technical Advisory Service
Monday - Friday 09:00 - 17:00
yvonne.daniel@gstt.nhs.uk
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Red Cell Laboratory at Guy's and St Thomas' Hospital
Red Cell Referral Form
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Last updated: 19/01/2023