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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: | |
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Non-disclosure and Complaints
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This notice describes how medical information about you may be used and disclosed.
Personal health information or related information released to HKMPDC relating to the services requested may be subjected to re-disclosure by HKMPDC to health care providers, such as doctors, nurses, and others involved in the delivery of the services.
We may also disclose medical information about you to authorised public health or government officials for public health activities as required by law and accreditation body.
Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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