Clinical Indication ID & Name
Familial melanoma
Test Group
Inherited cancer
Specialties
Test code
R254.1
Test name
N/A
Target genes
Familial melanoma (522)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Testing of phenotypically affected individual (proband) where the individual +/- family history meets ONE of the following criteria. The proband has:
a. ≥2 melanomas and/or melanomas in situ age <30 years, OR
b. ≥3 melanoma and/or melanomas in situ at any age, OR
c. Melanoma and/or melanoma in situ AND ≥2 relatives (first / second / third degree relatives) with melanoma and/or melanoma in situ, OR
d. Melanoma and/or melanoma in situ AND ≥1 first degree relative with melanoma and/or melanoma in situ; one individual has multiple melanomas and/or melanomas in situ, OR
e. ≥1 Melanoma and/or melanoma in situ OR melanoma and/or melanoma in situ and atypical moles AND ≥1 first degree relative with pancreatic cancer aged <60, OR
f. Atypical moles AND ≥2 relatives (first / second degree relatives) with melanoma and/or melanoma in situ, OR
g. Deceased affected individual (proband) where (i) the individual +/- family history meets one
of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Test code
R254.2
Test name
N/A
Target genes
Familial melanoma (522)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Testing of phenotypically affected individual (proband) where the individual +/- family history meets ONE of the following criteria. The proband has:
a. ≥2 melanomas and/or melanomas in situ age <30 years, OR
b. ≥3 melanoma and/or melanomas in situ at any age, OR
c. Melanoma and/or melanoma in situ AND ≥2 relatives (first / second / third degree relatives) with melanoma and/or melanoma in situ, OR
d. Melanoma and/or melanoma in situ AND ≥1 first degree relative with melanoma and/or melanoma in situ; one individual has multiple melanomas and/or melanomas in situ, OR
e. ≥1 Melanoma and/or melanoma in situ OR melanoma and/or melanoma in situ and atypical moles AND ≥1 first degree relative with pancreatic cancer aged <60, OR
f. Atypical moles AND ≥2 relatives (first / second degree relatives) with melanoma and/or melanoma in situ, OR
g. Deceased affected individual (proband) where (i) the individual +/- family history meets one
of the above criteria, (ii) appropriate tissue is available (tumour or normal), and (iii) no living affected individual is available for genetic testing.
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present
Commissioning group
Specialised
Overlapping idications
• M7 Melanoma (adult) and M187 Uveal melanoma should be used for somatic testing
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form