Beta Gene sequencing

Molecular analysis of the beta globin gene allows for the confirmation and identification of mutations that give rise to haemoglobin variants and thalassaemias. The beta globin gene, consisting of 3 exons and 2 introns, codes for 146 amino acids over 1600bp. Beta gene sequencing detects and identifies mutations, delections and insertions within the gene that can be associated with quantitative or qualitative variations in the haemoglobin molecule and their associated hereditary diseases.
Clinical details: 
Beta gene mutation screening for thalassaemias and Hb variants
Reference range: 


Synonyms or keywords: 
BTHAL, beta gene analysis, beta gene mutations, beta thalassaemia mutation identification, beta gene variant identification
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: 
Target TAT is 14 working days. For complex cases where additional tests are required each test will add to the overall TAT. For urgent requests please contact laboratory via telephone, so samples can be prioritised.
Special sample instructions: 

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.

Storage and transport: 
Blood should be stored at 4°C where possible and may be transported at ambient temperature.
Time limit for extra tests: 
Additional tests will add to the overall TAT. The additional time required will depend on the type of tests required. Additional molecular tests may add 2 to 8 weeks, from the point that the additional test is added.
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): and
Monday - Friday 09:00 - 17:00 (paediatric):
Red Cell Laboratory at Guy's and St Thomas' Technical Advisory Service
Monday - Friday 09:00 - 17:00
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

Print as a PDF

Last updated: 29/09/2022