Autoimmune Lymphoproliferative Syndrome/ALPS Panel
Use
This test is designed for individuals who exhibit symptoms suggestive of Autoimmune Lymphoproliferative Syndrome (ALPS), a genetic disorder characterized by the abnormal proliferation of lymphocytes. It is useful in confirming a clinical or suspected diagnosis of ALPS, aiding in the identification of genetic mutations responsible for the condition. Additionally, it benefits individuals with a family history of ALPS, providing information that can be essential for familial screening and management.
Special Instructions
This test requires the submission of a completed clinical features checklist, which significantly enhances the interpretative accuracy of genetic results. Ordering physicians should ensure all patient and family historical data is as comprehensive as possible to facilitate optimal interpretation.
Limitations
The test does not detect variants not covered by the NGS methodology used. Moreover, it may not identify mutations in regulatory regions that are not sequenced and mutations in genes not included in the panel. CNV analysis through NGS may miss low-level mosaicism and deep intronic variants. Results should be interpreted in the context of other clinical and familial information.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided