Invitae Hereditary Skin Cancer Panel
Use
The Invitae Hereditary Skin Cancer Panel analyzes genes that are associated with syndromic and non-syndromic predisposition to skin cancer including but not limited to basal cell nevus syndrome, BAP1 tumor predisposition syndrome, and melanoma-pancreatic cancer syndrome. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Given the clinical overlap of skin cancer susceptibility conditions, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested.
Special Instructions
Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Limitations
This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue. Some variants, such as structural rearrangements (e.g., inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture, may not be detected. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. In rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.
New York Approved
Methodology
NGS
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 (K2EDTA or K3EDTA)