The MYH9 gene provides instructions for making a protein called myosin-9. This protein is one part (a subunit) of the myosin IIa protein. MYH9-related disorder is a condition that can have many signs & symptoms, including bleeding problems, hearing loss, renal disease, and clouding of the eye lens (cataracts).
Tube
03 (EB) – EDTA Blood
ID
12733
Availability
By special arrangement
Additional information
MYH-9-related disorder was previously thought to be 4 separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome and Sebastian syndrome. All of these disorders involved thrombocytopenia, enlarged platelets and were distinguished by some combination of hearing loss, renal impairment or cataracts. When discovered these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.
Turn around
60 days
Send to
Specialist Coagulation
Centre for Laboratory Medicine
St James University Hospital
Beckett Street
Ä¢¹½tvÊÓƵ
LS9 7TF
Contact
Collection Con
Transport samples to SJH Specialist Haematology lab within 12 hours.
Sample REQ
Blood
Units
Descriptive report