MYH9 mutation screen

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.
Reference range: 


Synonyms or keywords: 
MYH9 MYH9 related disease MYH9-RD May-Hegglin anomaly Sebastian syndrome Fechtner syndrome Epstein syndrome
Sample type and Volume required: 
1 x Edta
Call in advance: 
Turnaround time: 
8 weeks
Storage and transport: 
transport at ambient temperature
Molecular Haemostasis Laboratory at St Thomas'
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
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 14/03/2017