MYH9 Gene Mutation
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 arrangment |
| 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 Chancellor / Lincoln Wing Link Corridor Pathology Block 32 St James University Hospital Beckett Street Leeds LS9 7TF |
| Contact | https://www.leedsth.nhs.uk/a-z-of-services/pathology-2/specialist-laboratory-medicine-slm/specialist-coagulation/?stage=Stage |
| Collection Con | Transport samples to SJH Specialist Haematology lab within 12 hours. |
| Sample REQ | Blood |
| Units | Descriptive report |
| ICE Codes | No ICE code available |
