MTHFR mutation analysis

DESCRIPTION – this test is used to detect mutation in C677T and A1298C. It also detects the higher than normal level of homocysteine levels in blood.

CLINICAL UTILITY – variations in this gene can severely impact how well your body metabolizes folate and folic acid. Both are forms of vitamin B9, required for numerous critical body functions.

METHODOLOGY – fluorescence in situ hybridization (FISH) or real time polymerase chain reaction (real time PCR)

TURN AROUND TIME – 10 days

PATIENT PREPARATION –

COLLECT – non diluted bone marrow aspirate

SPECIMEN PREPARATION – 3-4 ml bone marrow or peripheral blood in green top (sodium heparin) or lavender top (EDTA) tube

STORAGE/TRANSPORT TEMPERATURE – 2-8 degrees C (with cold pack)

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITIONS – clotted specimens. Plasma or serum

MRP – 5000.00

SPECIAL INSTRUCTIONS – clinical history is mandatory