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
Specialist Red Cell Laboratory
Phone – 020 4591 0045
Synnovis Hub
Floor 2
Friars Bridge Court
41-43 Blackfriars Road
London SE1 8NZ