Hereditary melanoma [14 genes]

Between 7-15% of melanoma patients carry genetic variants predisposing to their disease. The gene most implicated in hereditary melanoma is CDKN2A. In fact, a quarter of familial cases are associated with mutations in this gene. Other genes are also implicated. If a hereditary component is suspected in a patient with melanoma, our recommendation would be to study the following genes.

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Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

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2) Sample collection

See sample types in the guidelines

3) Pack the sample

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4) Send the sample & the request

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5) Result: the report

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Hereditary melanoma

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Consentimiento*
Technique: NGS capture panel

Turnaround time (TAT): 15 days

Ref. S-202211932

Updated (dd/mm/yy): 14/10/2025

Hereditary melanoma: View panel
  • ACD
  • BAP1
  • BRCA1
  • BRCA2
  • CDK4
  • CDKN2A
  • MC1R
  • MITF
  • POT1
  • PTEN
  • RB1
  • TERT
  • TERF2IP
  • TP53

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.

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