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GTR Home > Tests > Wilson disease

Overview

Test name

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Wilson disease

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Specimen type: whole blood, buccal swab, DBS, etc. Days that sample should be accepted: 72h for whole blood, 72h for buccal swab Required forms: a paper Test Requisition Form and Consent Form
Order URL Help: http://www.joingenome.com

Specimen source

Buccal swab
Buffy coat
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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Not provided

Test services

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

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.