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GTR Home > Tests > Joubert Syndrome

Overview

Test order codeHelp: Joubert Syndrome

Test name

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Joubert Syndrome

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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By requisition
Order URL Help: https://amplexa.formstack.com/forms/orderform

Specimen source

Isolated DNA
Peripheral (whole) blood
Saliva
Specimen requirements: https://www.amplexa.com/requisition

Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)
  • SeqStudio Genetic Analyzer

Summary of what is tested

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Click Methodology tab for more information.

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, comments

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.