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GTR Home > Tests > Crouzon Syndrome with Acanthosis Nigricans


Test name


Crouzon Syndrome with Acanthosis Nigricans

Purpose of the test


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



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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
Chorionic villi
Isolated DNA
Peripheral (whole) blood


Molecular Genetics
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130 Capillary Sequencing System

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Predictive risk information for patient and/or family members

Clinical validity


incidence of the mutation p.A391E in the FGFR3 gene is approximately 70% in individuals with this disorder.


Not provided

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.