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GTR Home > Tests > Apert Syndrome - FGFR2 Exon 8


Test name


Apert Syndrome - FGFR2 Exon 8

Purpose of the test


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



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Click Indication tab for more information.

How to order


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

Specimen source

Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)


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

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Reproductive decision-making

Clinical validity


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

Test services

  • 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.