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ID:948 MYH9 Gene Mutation
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DescriptionThe 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).
IndicationThis test is requested by a Medical Haematologist for further investigation into ?? May-Hegglin anomaly.
Additional InfoMYH-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.
Concurrent TestsPlatelet Function Testing
Dietary RequirementsNone
InterpretationWritten Report

DepartmentSpecialist Laboratory Medicine
TubeEDTA (Haem)
Tube Picture
Collection ConditionsNo restrictions
Min. Vol 2 mls

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes
Units- Descriptive Report
IP Acute TAT- Contact Laboratory
IP Routine TAT30 days
GP Acute TAT- Contact Laboratory
GP Routine TAT30 days
Turnround CommentThis is an externally referred test

Originally edited by : RJAR. Review due on 19/12/2018 14:09:28. Published By RJAR on 19/12/2017 14:09:28.