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Genetic Disorders
Genetic Disorders


Test Name: Hearing Loss Hotspot Mutation Screening (GJB2, GJB3, mtDNA & SLC26A4)
Compliance:CE-IVD
Test Description:Hearing loss is an etiologically heterogeneous trait with a high incidence in China. Though conventional newborn hearing screening program has been widely adopted, gene detection can significantly improve the means of early discovering genetic risk factors. Thirteen mutation in GJB2, GJB3, mtDNA and SLC26A4 could be detected in this test.
Methodology:PCR hybridization detection of Hearing Loss hotspot detection
Gene Name:GJB2, GJB3, mtDNA, SLC26A4
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
35/F, Enterprise Square Two, 3 Sheung Yuet Road, Kowloon Bay, 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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