Alpha Gene Sequencing

Description: 
Molecular analysis of the alpha globin gene allows for the confirmation and identification of mutations that give rise to haemoglobin variants and thalassaemias. Alpha gene sequencing detects and identifies mutations, delections and insertions within the alpha 1 and alpha 2 genes that can be associated with quantitative or qualitative variations in the haemoglobin molecule and their associated hereditary diseases.
Clinical details: 
Alpha gene mutation screening for thalassaemias and Hb variants
Related condition or disease: 
Alpha thalassaemia and alpha globin gene variant carriers and diseases
Reference range: 

n/a

Synonyms or keywords: 
ASEQ, alpha gene analysis, alpha gene mutations, alpha thalassaemia mutation identification, alpha gene variant identification
Units: 
n/a
Department: 
Special Haematology Department
Location: 
St Thomas' Hospital
Sample type and Volume required: 
Whole Blood

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: 
1 month
Criteria for acceptance / rejections of sample
Storage and transport: 
EDTA/DNA
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: 29/09/2022