Hermansky-Pudlak Syndrome via the HPS3 Gene, Exon 1 Deletion
Use
This genetic test is intended for individuals who have undergone prior genetic testing with negative results or have detected a single variant related to autosomal recessive disease in the relevant gene. It is also suitable for individuals with a high clinical suspicion of a disease affected by the HPS3 gene. Family members of patients previously testing positive for this particular gene deletion or duplication may also consider this test for further insights.
Special Instructions
Standard institutional pricing is available upon logging in. The test is performed under regulations compliant with CAP and CLIA, and the performance characteristics have been validated by PreventionGenetics LLC. However, it should be noted that the test has not been cleared or approved by the US Food and Drug Administration. Additional tests and targeted family testing are options to consider after the initial report is received.
Limitations
The analytical scope of this test is limited to the detection of deletions, duplications, and inversions in the HPS3 gene, focused explicitly on the exon 1 deletion. It cannot comprehensively identify other genetic variants beyond this region. Moreover, while the test is validated under specific regulatory standards, it is not FDA approved, and results should be interpreted in conjunction with clinical findings and other diagnostic information.
Methodology
PCR-based (Targeted 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