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GTR Home > Tests > Transthyretin (TTR) gene Val30Met mutation detection test

Overview

Test order codeHelp: 28-1

Test name

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Transthyretin (TTR) gene Val30Met mutation detection test (FAP)

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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Completion of the laboratory referral letter by the referring physician/scientist. Provision of a signed informed consent form. Both forms are available on the laboratory website.
Order URL Help: http://www.cing.ac.cy/easyconsole.cfm/id/364

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130xl genetic analyser
Restriction enzyme analysis

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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.