Homocystinuria / Hyperhomocysteinemia (main mutation)

Hematology

08.006

Homocystinuria / Hyperhomocysteinemia (main mutation)

MTHFR

Signs/symptoms:	Thrombosis
Complications:	Atherothrombosis
Early diagnosis/treatment:	Yes

Morita et al. (1997) reported a significantly higher frequency of the 677C-T allele in the disease group.

Material required:
Blood tubes:	EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush:	Yes

Chromosomal localization:

1p36.3

OMIM number:

607093

Methylentetrahydrofolate reductase (mutation C677T)

MTHFR

Gene regions tested:
Gene regions:
Amino acid positions:	C677T
Nucleotide positions:
Test methods:	Restriction Fragment Length

Prices:

Switzerland:

8820.00

8811.01

8818.00

8810.13

	TP REVAL:	170	TP Value:	0.9	CHF	153.00
Other europe:	EUR					120.00
Other regions:	USD					call

References:

Kim RJ, Becker RC. Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J. 2003;146:948-957.

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Homocystinuria / Hyperhomocysteinemia (main mutation)

Homocystinuria / Hyperhomocysteinemia (main mutation)

MTHFR

Material required:

Methylentetrahydrofolate reductase (mutation C677T)

MTHFR

Gene regions tested:

Prices:

Switzerland:

References:

Browse Gene Tests

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