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Genetic Disorders
Genetic Disorders


Test Name: MTHFR Hotspot Mutation Detection
Compliance:LDT
Test Description:Methlyenetetrahydrofolate reductace (MTHFR) is a key enzyme in the metabolism of homocysteine. Mutations in the MTHFR gene have been reported as causes of hyperhomocysteinemia. The most common MTHFR mutations are C677T and A1298C.
Methodology:PCR-Sanger sequencing detection of hotspot mutations C677T, A1298C (c.665C>T, c.1286A>C)
Gene Name:MTHFR
Protein Name:
Specimen Requirements:EDTA Blood (5mL)
Storage Condition:Ambient Temperature / 4℃ (if overnight is needed)
Turn Around Time:5 working days from day of specimen received
OMIM:
Genetic Home Reference:
Phone: +852.2986.1213
Fax:+852.2527.7028
E-mail:contact@hk-mpdc.com
27/F., Strand 50, No.50 Bonham Strand, Sheung Wan, Hong Kong
Opening Hours
Mondays to Fridays: 09:00-18:00
Saturdays: 09:00-16:00
Sundays and Public Holidays: Closed

For specimen pickup arrangements, please phone +852.2986.1213


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