Nevoid Basal Cell Carcinoma Syndrome Panel
Use
This test is intended for individuals who exhibit clinical features of nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, or who have a suspected diagnosis. It is also suitable for individuals with family members who have presumed nevoid basal cell carcinoma syndrome without prior genetic testing or who lack access to their family member's specific variant information, even if the family member has a confirmed genetic diagnosis of the syndrome.
Special Instructions
Not provided.
Limitations
The test analyzes three genes associated with nevoid basal cell carcinoma syndrome using next-generation sequencing with CNV detection (PGselect platform). All testing must be ordered by a qualified healthcare provider, and a completed online order or paper TRF along with a labeled specimen is required to initiate testing. Performance characteristics of the test were validated by PreventionGenetics LLC but were not cleared or approved by the U.S. FDA.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
PTCH1, SUFU, PTCH2
Gene
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