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GTR Home > Tests > Facial Dysostosis Panel


Test name


Facial Dysostosis Panel

Purpose of the test


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



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Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Clinical validity


Facial dysostosis refers to a clinically and etiologically heterogeneous groups of congenital craniofacial anomalies and arise as a result of abnormal development of the first and second pharyngeal arches and their derivatives during embryogenesis. Facial dysostosis can be subdivided into acrofacial dysostoses and mandibulofacial dysostoses; the former presents with craniofacial anomalies similar to the latter but typically with the addition of limb defects. Several distinct facial dysostosis syndromes have been described including Treacher Collins syndrome, mandibulofacial dysostosis with microcephaly, Miller syndrome and Nager syndrome. In addition, clinical overlap exists between facial dysostosis syndromes and known Mendelian conditions like CHARGE syndrome and Feingold syndrome.


Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.