Invitae Melanoma-Pancreatic Cancer Syndrome Panel
Use
This test analyzes CDKN2A and CDK4, genes associated with melanoma-pancreatic cancer syndrome (M-PCS) or familial atypical mole-malignant melanoma syndrome (FAMMM). Performing genetic testing of these genes can confirm a diagnosis and assist in developing treatment and management plans. It can also help identify at-risk relatives for testing and diagnosis. This test targets heritable germline mutations, not somatic mutations in tumor tissue.
Special Instructions
This test is designed for heritable germline mutations rather than detecting somatic mutations in tumor tissue. The analyzed DNA may not represent the patient's constitutional genome in rare cases, such as circulating hematolymphoid neoplasm, bone marrow transplant, or recent blood transfusion.
Limitations
The assay covers clinically important regions of genes, including coding exons and adjacent intronic sequences up to 10-20 base pairs on either side, depending on the specific gene. It includes select non-coding variants, but variants outside these areas or complex structural rearrangements may not be detected. Detection of large insertions and deletions >15bp but <1 exon might have reduced sensitivity. Certain variant details like mosaicism or phasing may not be fully resolved.
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 (K2EDTA or K3EDTA)