GTR Home > Tests > TERC-Related Dyskeratosis Congenita

Overview

Test order codeHelp: 2120

Test name

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TERC-Related Dyskeratosis Congenita

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Mutations in the TERC gene account for approximately 6% of Dyskeratosis Congenita cases.

Citations

Not provided

Clinical utility

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Not provided

Testing strategy

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Testing available as an individual gene sequence analysis, as part of a concurrent or reflex panel, or specific site analysis.

How to order

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Order URL Help: http://ambrygen.com/forms

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 2120
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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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