Invitae Basal Cell Nevus Syndrome Panel
Use
This test analyzes the PTCH1 and SUFU genes, which are associated with basal cell nevus syndrome (BCNS). BCNS, known as Gorlin syndrome, increases the risk of developing various tumors such as basal cell carcinomas. Genetic testing can confirm a diagnosis, guide treatment and management decisions, and assist in diagnosing at-risk relatives. It is essential for identifying heritable germline mutations.
Special Instructions
The test is designed for heritable germline mutations and not for detecting somatic mutations in tumor tissue. It is CAP-accredited and CLIA-certified.
Limitations
The test may not detect certain types of variants such as structural rearrangements or those in complex sequences. It does not cover non-coding regions or inducations of mosaicism. Single-exon copy number events might sometimes not be analyzed due to sequence properties.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube