Coffin-Siris Syndrome Panel
Use
The Coffin-Siris Syndrome Panel is designed for individuals exhibiting features or a clinical suspicion of Coffin-Siris syndrome. This condition is characterized by developmental delay, intellectual disability, coarse facial features, and other congenital anomalies. Genetic testing can aid in confirming the diagnosis, understanding the etiology of the presenting features, and guiding management and genetic counseling for the families.
Special Instructions
This test requires a healthcare provider to complete the order. Options for STAT testing are available, with additional surcharges applicable. Family testing options and exome-wide CNV analysis are available as add-ons.
Limitations
The test has not been approved by the US FDA, and its sensitivity and specificity rely on laboratory-validated performance rather than regulatory approval. Results must be interpreted in the context of clinical findings and family history. Variants of unknown significance may be detected, and further clinical correlation is recommended. Under/over-representation of CNV segments may also occur.
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