The gene that is more commonly affected in a predisposition towards melanoma is CDKN2A, which is implicated in 20-40% of familial cases. These alterations can be associated with Familial melanoma syndrome and pancreatic cancer. Other less common predisposing genes, but that are associated with a high risk of hereditary melanoma and other cancers are CDK4, POT1, BAP1, and MITF.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 15 days
Ref. S-202211932
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
