Alpha and Beta gene MLPA (for large deletions and insertions)
- Description
- MLPA analysis for large deletions and insertions in the beta and alpha globin gene (HPFH, delta beta thalassaemia, 619 deletion, rare alpha globin gene deletions and increased copy numbers).
- Clinical details
Investigation of raised haemoglobin F, low red cell indices when common mutations have been excluded.
- Related condition
- Reference range
n/a
- Units
N/A
- Synonyms
HPFH, Hereditary persisance of fetal Haemoglobn screen, Delta beta thalassaemia, Large beta gene mutations, large beta gene deletions, 619bp deletion, alpha thalassaemia.
- Testing site
- Synnovis : Blood Sciences : St Thomas' Hospital
- 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
Referred in 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
20 working days from point of test request or add on of this test. For complex cases where additional tests are required each additional test request will add to the total turnaround time.
Please contact laboratory to discuss urgent requests.
- Time limit for extra tests
7 days after sample collection
- Contacts
Specialist Red Cell Laboratory
Phone – 020 4591 0045
Synnovis Hub
Floor 2
Friars Bridge Court
41-43 Blackfriars Road
London SE1 8NZ