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GTR Home > Tests > Joubert Syndrome

Overview

Test order codeHelp: 92050

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, Mutation Confirmation, Risk Assessment, Screening

Condition

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How to order

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http://www.questdiagnostics.com/ this test is also included the following carrier panel: QHerit expanded carrier screening panel-test code 94372 fetal samples: please call GeneInfo at 866.436.3463 to discuss case with a Quest genetic counselor
Order URL Help: http://www.questdiagnostics.com/

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Peripheral (whole) blood
Specimen requirements: http://www.questdiagnostics.com/

Methodology

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Molecular Genetics
TTargeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Testing strategy

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http://www.questdiagnostics.com/ 000 http://www.questdiagnostics.com/ this test is also included the following carrier panel: QHerit expanded carrier screening panel-test code 94372 fetal samples: please call GeneInfo at 866.436.3463 to discuss case with a Quest genetic counselor

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.