Kabuki Syndrome Panel
Use
The Kabuki Syndrome Panel is intended for individuals with features and a clinical or suspected diagnosis of Kabuki syndrome. This genetic test helps in confirming the diagnosis of Kabuki syndrome, which is characterized by developmental delay, intellectual disability, distinctive facial features, and a spectrum of other physical abnormalities. Early diagnosis through genetic testing allows for better management and care strategies tailored to the patient's specific needs.
Special Instructions
The Kabuki Syndrome Panel is available with STAT testing options, which expedites the processing time. The test can be ordered using a provided requisition form and online ordering through 'myPrevent' is recommended for ease and efficiency. Institutional pricing is accessible upon signing in.
Limitations
The Kabuki Syndrome Panel covers 9 genes and uses an NGS platform with CNV analysis. While comprehensive, the panel may not identify all genetic variants related to Kabuki syndrome. Additionally, the test has not been cleared or approved by the US Food and Drug Administration, which may affect its availability or use in certain regions. False negatives are possible, and results should be interpreted in the context of clinical findings and family history.
New York Approved
Methodology
NGS (Targeted)
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