Xeroderma Pigmentosum (XP) Panel
Use
This test is designed for individuals who exhibit clinical features or have a suspected diagnosis of Xeroderma Pigmentosum (XP), a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight. It may also be relevant for reproductive partners of individuals with a known pathogenic variant in genes associated with XP. Early diagnosis is crucial for management and preventive measures to minimize exposure to UV light and reduce the risk of skin cancers.
Special Instructions
This test utilizes NGS technology with CNV detection, suitable for analyzing whole exome or genome platforms. It may be performed using different specimen types depending on the platform selected. There are add-on options like Exome-wide CNV Analysis for an additional cost, and STAT testing services are available with an additional surcharge.
Limitations
The test is limited to the detection of mutations within the specified 9 genes associated with Xeroderma Pigmentosum. It does not detect other genetic conditions or mutations outside of the targeted genes. Variants of unknown significance may be identified, and their clinical relevance may not be immediately clear. Environmental factors or other genes not included in this test may also contribute to the clinical presentation.
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