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Clinical tool Free NHS GTD R254

Familial melanoma — clinical genetics referral (R254)

NHS Genomic Test Directory R254 testing-criteria checker. Enter the proband phenotype and family history; the tool flags which R254 criterion is met (a–g) and whether a referral to clinical genetics is indicated.

Tool safetyClinician-support only

This is an aide-mémoire for the R254 eligibility criteria. It does not replace specialist cancer genetics MDT review. Referrals are triaged by the Genomic Laboratory; testing is targeted at cases where a genetic or genomic diagnosis will guide management. Outside the criteria, discuss at a specialist MDT with a cancer geneticist if there is clinical concern.

Proband — phenotype
Proband has clinically atypical moles (≥ 1 atypical naevus on examination)
Family history — first- or second-degree relatives
At least one first- or second-degree relative with melanoma diagnosed at age < 30
At least one first-degree relative with pancreatic cancer diagnosed at age < 60
R254 eligibility
Enter the proband and family history to assess R254 eligibility.

Criteria worked example

  • ·a. ≥ 1 melanoma at age < 18 years
  • ·b. ≥ 2 melanoma and/or melanoma in situ at age < 30 years
  • ·c. One melanoma at age < 30 AND ≥ 1 first- or second-degree relative with melanoma at age < 30
  • ·d. ≥ 3 melanoma and/or melanoma in situ at any age
  • ·e. Total of ≥ 3 melanoma across the proband (must have ≥ 1) plus first- or second-degree relatives
  • ·f. ≥ 2 melanoma and/or melanoma in situ AND ≥ 1 first-degree relative with pancreatic cancer at age < 60
  • ·g. ≥ 1 melanoma and/or melanoma in situ AND atypical moles AND ≥ 1 first-degree relative with pancreatic cancer at age < 60
Logic per NHS England National Genomic Test Directory — R254 Familial melanoma testing criteria; verify against the live directory before referral.
Important. Educational aid only. The NHS Genomic Test Directory is updated periodically — confirm against the current published R254 entry before submitting a referral. Testing is triaged by the Genomic Laboratory Hub. Pre- and post-test counselling, family communication and Manchester / variant-of-uncertain-significance considerations are managed within the clinical genetics service. Outside R254 criteria, R254 testing may still be appropriate after specialist cancer genetics MDT review — do not rely on a "No" verdict alone where there is clinical concern.

Source basis

  1. This page was launch-reviewed on 19 May 2026. See the source-control register for the NICE, NHS England, BAD, RCPath, WHO, AJCC / TNM and pivotal-trial sources used across the site; check live guidance and local MDT policy before applying recommendations.

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