IRF6-Related Disorders Panel
Use
This test is intended for individuals presenting with clinical features or a family history indicative of IRF6- or GRHL3-related disorders, including orofacial clefts. It aids in confirming a clinical or suspected genetic diagnosis, providing clarity in cases where specific variant information is unavailable for family members, thereby guiding clinical management and genetic counseling.
Special Instructions
This panel can be coupled with Exome-Wide CNV Analysis for additional insights. Specimens can be collected across various platforms like blood or saliva, depending on availability. Ensure proper test requisition forms are filled and submitted to facilitate correct processing.
Limitations
While the use of NGS with CNV capabilities enhances detection, limitations include the inability to detect certain types of mutations not covered by the method used. Additionally, variants of uncertain significance may not be clinically actionable. It is imperative to note that this test has not been FDA cleared or approved, potentially impacting its availability in certain jurisdictions.
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