Melanoma is regarded as one of the most aggressive forms of human cancers. An estimated 5%–10% of all melanoma cases occur in families. Familial atypical multiple mole melanoma syndrome is caused by pathogenic variants in the CDKN2A gene and may be present in up to 40% of familial cases of melanoma. Other cancer susceptibility syndromes/genes that increase the risk of developing skin cancers, either as a primary or secondary disease, include BAP1-related tumor predisposition syndrome (BAP1), hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2), MITF-related melanoma and renal cell carcinoma predisposition syndrome (MITF), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), and Werner syndrome (WRN). This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.
TAT
6 weeks
CPT Code
81162
81404
81405
81479
Test Code
5161
Test Methods
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents
