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GTR Home > Tests > Transthyretin (TTR) gene sequencing test


Test order codeHelp: 28-1.01

Test name


Transthyretin (TTR) gene sequencing test (FAP)

Purpose of the test


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



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Click Indication tab for more information.

How to order


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


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130xl genetic analyser

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously

Suggested reading

  • Berk et al., 2013
    Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.

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.