HKPMDC
 All     Test   
 
Hematopathology
Hematopathology


Test Name: HFE Gene Hotspot Mutation Detection
Compliance:LDT
Test Description:Hereditary hemochromatosis (HH) is a common genetic disorder of iron metabolism that is usually inherited in an autosomal recessive pattern and associated with missense mutations in the HFE gene. This test detects the 2 common disease-causing variants in the HFE gene: C282 and H63.
Methodology:PCR-Sanger sequencing analysis of mutations in exons 2 and 4 of the HFE gene
Gene Name:HFE
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


Shipping & Billing Information

HOKLAS accreditation scope