Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Use
This test is useful for establishing a diagnosis of severe combined immunodeficiency (SCID) associated with known causal genes. It helps identify variants within genes associated with SCID, allowing for predictive testing of at-risk family members and the determination of targeted management strategies such as anticipatory guidance, management changes, and specific therapies. Identification of a disease-causing variant aids in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for SCID.
Special Instructions
For skin biopsy or cultured fibroblast specimens, a fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified. For postnatal umbilical cord blood specimens with an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
Limitations
The test uses next-generation sequencing which may not detect all variants. It detects single nucleotide and copy number variants in 50 genes associated with SCID. Methodological limitations include potential false negatives for very low-level mosaicism and variants outside of targeted regions or those that might not be covered due to technical limitations. The sequencing method may not accurately determine all CNVs especially near segmental duplications, or other sequences present in multiple copies within the genome.
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