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GTR Home > Tests > Craniodysmorphology Panel (FGFR1,2,3,TWIST)


Test name


Craniodysmorphology Panel (FGFR1,2,3,TWIST) (FGFR1,2,3, TWIST)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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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
Product of conception (POC)


Molecular Genetics
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130 Capillary Sequencing Instrument
TTargeted variant analysis
SNP Detection
  • Restriction enzyme digestion and electrophoresis

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Clinical validity


Incidence of mutations in the FGFR2 gene (exons 8 and 10) in Craniodysmorphology syndromes is 80%.


Not provided

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.