GTR Home > Tests > Facial Dysostosis Sequencing Panel

Overview

Test name

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Facial Dysostosis Sequencing Panel

Purpose of the test

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

Condition

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6 conditions tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

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

Genes

Clinical validity

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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.

Citations

Clinical utility

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Establish or confirm diagnosis

How to order

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•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

Test services

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

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