Beta Gene sequencing
- Description
- 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
- Related condition
- Reference range
N/A
- Units
N/A
- Synonyms
BTHAL, beta gene analysis, beta gene mutations, beta thalassaemia mutation identification, beta gene variant identification
- Testing site
- Synnovis : Blood Sciences : Blackfriars Hub
- Laboratory
- Red Cell
- 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.
- 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.
- 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.
- 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.
- Contacts
Specialist Red Cell Laboratory
Phone – 020 4591 0045
Synnovis Hub
Floor 2
Friars Bridge Court
41-43 Blackfriars Road
London SE1 8NZ