Pathology Handbook

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Methylene tetrahydrofolate reductase mutation (Sendaway Test)

Alternative Names:

MTHFR

Laboratory:

Haematology

Test Code:

MSM

Specimen Types:

Blood

Container Types:

EDTA 4 mL

Adults Volume or Mass:

10 mL

Minimum/Paediatric Volume or Mass:

3 mL

Collection & Request Instructions:

A separate container is required for this test.

Specimen MUST be delivered to laboratory within <48 hours from collection (Monday - Thursday, excluding public holidays). 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:

Room Temperature