GTR Home > Tests > Alagille Syndrome - JAG1 Known Point Mutation Analysis

Overview

Test name

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Alagille Syndrome - JAG1 Known Point Mutation Analysis

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
Uni-directional Sanger sequencing
  • Applied Biosystems 3730 capillary sequencing instrument
  • Qiagen QIAcube

Summary of what tested

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

Genes and variants

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL Help: http://www.chop.edu/service/labs-molecular-genetics/specimen-handling.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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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