Inherited Ichthyoses and Related Disorders Panel
Use
This panel is intended for individuals with relevant features and a clinical or suspected diagnosis of inherited ichthyosis. It is also useful for reproductive partners of individuals with known pathogenic variants in ichthyoses-associated genes. It aims to provide comprehensive genetic insights by analyzing 68 genes associated with these conditions, offering valuable information for diagnostic and family planning purposes.
Special Instructions
This test utilizes Next-Generation Sequencing (NGS) with CNV detection on Exome or Genome platform. Special order instructions can apply for different options like STAT testing and exome-wide CNV analysis. Institutional pricing is available upon signing up on myPrevent for standard orders.
Limitations
The performance of this test is validated under CAP and CLIA regulations but has not been cleared or approved by the US FDA. While the test provides comprehensive genetic information, possible limitations include potential errors in CNV detection, and regions with poor coverage might not provide complete insights. Results should be interpreted considering clinical findings and family history.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided