Alpha Gene Sequencing

Overview
Ordering info
Further Info

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

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:

Blackfriars Hub

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:

For clinical advice or interpretation of results, please contact the laboratory in the first instance.

Laboratory:

Red Cell Laboratory at the Blackfriar’s Hub

Red Cell Referral Form

PDF (460Kb)