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Methylene tetrahydrofolate reductase mutation

Laboratory:Human Molecular
Test Code:MS MTHFR
Specimen Types:Blood
Container Types:
EDTA 3 mL
Collection & Request Instructions:

For identification of carriers of inherited venous thrombophilia. General population screening and routine screening before prescribing oral contraceptives or hormone replacement therapy are not recommended. test should only be requested by a practioner skilled in genetic counselling of thrombophilia. The significance of a polymorphism in an affected individual is uncertain. Test is Methyl Tetrahydrofolate Reductase C677T.

 

 Homozygous mutation may be associated with increased thrombotic risk.

Transport Instructions between Sites and/or Laboratories:Room Temperature
External Laboratory:Melbourne Health Shared Pathology Service