Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies
Use
This test provides a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders. It aids in establishing a diagnosis of ALPS or a related disorder, which enables appropriate management and surveillance for disease features based on the specific gene or variant involved. Additionally, the test identifies variants within genes associated with ALPS or a related disorder, allowing for predictive testing of at-risk family members and contributing to diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.
Special Instructions
This test encompasses next-generation sequencing to uncover single nucleotide and copy number variants in 26 genes associated with autoimmune lymphoproliferative syndrome (ALPS) and its related disorders. It is important for healthcare providers to consider reflex tests such as fibroblast culture or maternal cell contamination studies for specific specimen types. Informed consent and proper genetic counseling prior to testing are recommended.
Limitations
While this comprehensive gene panel covers a wide array of genes related to autoimmune lymphoproliferative syndrome, not all genetic variants may be detected. Functional studies or additional genetic analyses might be necessary to further interpret some variants. Also, the detection of variants in certain genes beyond those listed may not be possible.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed if needed. Cord bloodrequires maternal cell contamination studies if accompanied by maternal blood.