GTR Home > Tests > Marfan Syndrome, Type 2 - TGFBR2 Gene

Overview

Test name

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Marfan Syndrome, Type 2 - TGFBR2 Gene (TGFBR2)

Purpose of the test

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

Condition

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5 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130 Capillary Sequencing System

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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10-15% of individuals with a clinical diagnosis of Marfan Syndrome will have a mutation in the coding regions of TGFBR2.

Clinical utility

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Not provided

How to order

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1. Choose the desired test from the Test Directory. 2. Obtain information on the required specimen for the specific test from the Test Information page. 3. Fill out the necessary test requisition form and any other required forms from the Forms page. 4. Provide the required Billing information or make the required payment arrangements. 5. Submit the sample according to the Specimen Handling instructions.
Order URL Help: http://www.saintfrancis.com/genetics/Pages/Test-Ordering.aspx

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.

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