Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Inversion
Use
This test is designed for individuals who have previously tested negative in genetic testing or have detected a single variant linked to an autosomal recessive disease in the relevant gene and have high clinical suspicion for a disease caused by that particular gene. It is also intended for family members of patients who have tested positive for specific deletions, duplications, or inversions in the UNC13D gene.
Special Instructions
Consider requesting targeted family testing if other family members need to be evaluated. Institutional pricing requires signing in. STAT testing is available with a surcharge.
Limitations
The test may not detect all mutations associated with FHL3. The performance of this assay may be affected by sample quality and other factors.
Methodology
PCR-based (PCR)
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
