MYH9 mutation screen
- Description
- Analysis of the MYH9 gene by PCR amplification and sequencing of the coding region and splice junctions.
- Clinical details
- MYH9-Related Disorders (MYH9-RD) are a spectrum of autosomal dominant macrothrombocytopenias, often with leukocyte inclusions (Döhle bodies). Prior to the identification of MYH9 as the gene responsible, patients were diagnosed as having May-Hegglin Anomaly, Sebastian Syndrome, Epstein Syndrome or Fetchner Syndrome dependent on the clinical phenotype e.g. sensorineural hearing loss, glomerulonephritis or presenile cataract. There is some genotype-phenotpye correlation in that mutations in the motor domain tend to have a more severe thrombocytopenia and higher risk of non-haematological abnormalities than those in the tail domain.
- Related condition
- Reference range
n/a
- Units
- n/a
- Synonyms
- MYH9 MYH9 related disease MYH9-RD May-Hegglin anomaly Sebastian syndrome Fechtner syndrome Epstein syndrome
- 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
- 8 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