GTR Home > Tests > Juvenile Polyposis Syndrome: SMAD4 Gene Deletion/Duplication

Overview

Test order codeHelp: UU

Test name

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Juvenile Polyposis Syndrome: SMAD4 Gene Deletion/Duplication

Purpose of the test

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This is a clinical test intended for Help: Pre-symptomatic, Mutation Confirmation, Risk Assessment, Diagnosis

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization

Summary of what is tested

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

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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genetics.emory.edu/egl/
Order URL Help: http://genetics.emory.edu/egl/

Suggested reading

  • Shovlin et al., 2000
    Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Practice guidelines

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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