GTR Home > Tests > Refsum Disease

Overview

Test name

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Refsum Disease

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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Click Indication tab for more information.

How to order

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Instructions including forms can be found on www.labgmd.nl
Order URL Help: http://www.labgmd.nl/

Specimen source

Amniocytes
Cell culture
Cell-free DNA
Chorionic villi
Fibroblasts
Isolated DNA
White blood cell prep

Methodology

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Biochemical Genetics
AAnalyte
Metabolite levels
EEnzyme assay
Enzyme activity
Molecular Genetics
CSequence analysis of the entire coding region
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

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • 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.