Craniofacial Malformations Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of craniofacial dysostosis or malformation. The panel consists of 19 genes relevant to these conditions and aims to assist in the genetic evaluation and clinical management of affected patients. The identification of a genetic mutation can contribute to a definitive diagnosis and potentially guide treatment options.
Special Instructions
Samples for this panel can be obtained using various specimen types. Exome platform testing accepts Blood, DNA, Buccal, Saliva, and Tissue samples, while the Genome platform requires Blood or DNA. STAT options are available with specific turnaround times. Orders require specific forms to be submitted, and testing can accommodate different familial configurations such as Patient Only, Family - Duo, or Family - Trio analysis.
Limitations
The Craniofacial Malformations Panel may not detect all possible mutations in the included genes. Variants of unknown significance may pose challenges in interpretation. This panel is focused on craniofacial-related genes, and conditions unrelated to this phenotype may not be covered. Additionally, limitations inherent to NGS, such as difficulty in detecting large structural variants, may affect results. Negative results do not rule out a genetic cause that could be in untested genes or regions.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided