GTR Home > Tests > Apert Syndrome - FGFR2 Exon 8

Overview

Test name

Help

Apert Syndrome - FGFR2 Exon 8

Purpose of the test

Help

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

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

Clinical validity

Help

One of two mutations, S252W or P253R, are found in 98% of individuals with Apert Syndrome.

Clinical utility

Help

Establish or confirm diagnosis

Reproductive decision-making

How to order

Help

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

Help
  • 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.