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
- Reference range
n/a
- Units
n/a
- Synonyms
ASEQ, alpha gene analysis, alpha gene mutations, alpha thalassaemia mutation identification, alpha gene variant identification
- Testing site
- Synnovis : Blood Sciences : Blackfriars Hub
- Laboratory
- Red Cell
- 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.
- Storage and transport
EDTA/DNA
- Turnaround time
1 month
- 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