Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies
Use
This test provides a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity causing a hereditary form of severe viral susceptibility. It helps in establishing a diagnosis of hereditary viral susceptibility, allowing for appropriate management and surveillance based on the gene or variant involved. Additionally, it facilitates the identification of variants within genes known to be associated with hereditary viral susceptibility, enabling predictive testing of at-risk family members.
Special Instructions
This test encompasses next-generation sequencing of 30 genes related to hereditary viral susceptibility. It includes identification of disease-causing variants that may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.
Limitations
The test is limited to detecting single nucleotide and copy number variants in the specified 30 genes. It does not detect large genomic rearrangements, other types of genetic aberrations, or variants outside the targeted regions. Results must be interpreted in the context of clinical findings and family history.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Preferably collected in a lavender top (EDTA) tube.
Collection Instructions
Collect in a lavender top (EDTA) tube.
Storage Instructions
Preferably refrigerated or frozen if there are delays in transport.
Causes for Rejection
Specimens other than EDTA tube, hemolyzed samples.