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GTR Home > Tests > JUP Gene Sequencing

Overview

Test name

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JUP Gene Sequencing (JUP)

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Complete the appropriate test requisition and have it signed by the referring physician.
Order URL Help: http://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/requisition/

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

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

Testing strategy

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Sequencing for this gene is also included on the EB next-generation sequencing panel. 000 Complete the appropriate test requisition and have it signed by the referring physician.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Suggested reading

Clinical resources

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.