GTR Home > Tests > Dyskeratosis congenita NGS panel

Overview

Test order codeHelp: 5203

Test name

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Dyskeratosis congenita NGS panel

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.

How to order

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Please use the equisition form and easy-to-use submission instructions available on the CTGT web site
Order URL Help: http://ctgt.net/how-to-order

Specimen source

Cell culture
Cord blood
Fibroblasts
Isolated DNA
Peripheral (whole) blood
Saliva
White blood cell prep
Specimen requirements: http://www.ctgt.net/order/specimens

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 5203
  • Confirmation of research findings
  • Custom Prenatal Testing, comments
  • Custom mutation-specific/Carrier testing

Suggested reading

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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