ITGA2B + ITGB3 mutation screen for Glanzmann Thrombasthenia
- Description
- Analysis of the ITGA2B and ITGB3 genes by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
- Clinical details
- Glanzmann Thrombasthenia is rare autosomal recessive platelet disorder, the result of defects in the ITGA2B or ITGB3 genes which code for the αIIb β3 receptor. The loss of fibrinogen and vWF binding results in a lack of platelet aggregation. Most patients have a normal platelet number and morphology. Clinical severity can be variable although most cases are diagnosed soon after birth. Purpura, epistaxis, gingival bleeding and menorrhagia are common, with gastrointestinal bleeding, hematuria and potentially fatal hemorrhage less so.
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- Glanzmann Thrombasthenia. Glanzmann's disease. Glanzmann-Naegeli syndrome. ITGB2A ITGB3 Thrombasthenia
- Testing site
- Synnovis : Genomics : St Thomas' Hospital
- Laboratory
- Molecular Haemostasis
- Sample type and volume required
- 1 x Edta
- Call in advance
- no
- Storage and transport
- transport at ambient temperature
- Turnaround time
- 12 weeks
- Contacts
Molecular Haemostasis Laboratory at St Thomas’ Hospital
Phone: 020 7188 2798
Haemostasis and Thrombosis
North Wing – 4th floor
St Thomas’ Hospital
Westminster Bridge Road
London SE1 7EH
Laboratory opening times
Monday – Friday 09.00 – 17.00