GTR Home > Tests > Connexin 26 common mutation

Overview

Test order codeHelp: 12

Test name

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Connexin 26 common mutation

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
RFLP

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.

Genes

  • Gene: GJB2 (13q12.11)

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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For DNA based tests, 2 ml blood should be collected in a tube containing EDTA. The tube should be labelled (patient's name, referring Government hospital registration number and date of collection). The EDTA tube should be sent (within 4 hours of blood collection) at room temperature or should be stored at 4◦ C (refrigerator door) and sent within 7 days at room temperature along with filled and signed test request form (TRF) within the stipulated time (Monday to Friday 10 am to 5 pm) to: Dr Atanu Kumar Dutta Genetic Services Unit (NIBMG) PG Polyclinic Building (3rd Floor) 5 Suburban Hospital Road Kolkata 700020 For questions and clarifications, please contact: Dr Atanu Kumar Dutta Phone number: 03346033246 email: gsu.bmgu@nibmg.ac.in
Order URL Help: https://goo.gl/rRr1vk

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • NICE, 2009
    National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009
  • ACMG, 2002
    Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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