Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller Syndrome/Acrofacial Dysostosis, Nagar Type Panel
Use
This test is for individuals with relevant features who have a clinical or suspected diagnosis of Treacher Collins syndrome or related disorders. It is also suitable for those who have a family member with presumed Treacher Collins syndrome or related disorders without previous genetic testing, as well as individuals without access to the specific variant information for a family member who has genetically-confirmed Treacher Collins syndrome or a related disorder.
Special Instructions
Not provided.
Limitations
This test has not been cleared or approved by the US Food and Drug Administration. Further limitations include the reliance on detailed clinical and family information for accurate variant interpretation. The test performance is based on compliance with CAP and CLIA regulations.
New York Approved
Methodology
NGS (CGP)
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