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. ≥1 melanoma < 18 years
b. ≥2 melanomas and/or melanomas in situ age <30 years, OR
c. ≥3 melanoma and/or melanomas in situ at any age, OR
d. Melanoma and/or melanoma in situ AND ≥2 relatives (first / second / third degree relatives)
with melanoma and/or melanoma in situ, OR
e. 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
f. ≥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
g. Atypical moles AND ≥2 relatives (first / second degree relatives) with melanoma and/or
melanoma in situ, OR
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
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. ≥1 melanoma < 18 years
b. ≥2 melanomas and/or melanomas in situ age <30 years, OR
c. ≥3 melanoma and/or melanomas in situ at any age, OR
d. Melanoma and/or melanoma in situ AND ≥2 relatives (first / second / third degree relatives)
with melanoma and/or melanoma in situ, OR
e. 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
f. ≥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
g. Atypical moles AND ≥2 relatives (first / second degree relatives) with melanoma and/or
melanoma in situ, OR
Deceased affected individual (proband) where all the following are met;
(i) the individual +/- family history meets one of the above criteria, AND
(ii) a previously stored constitutional blood/DNA or tissue sample (tumour or normal) is available,
AND
(iii) no living affected individual is available for genetic testing, AND
(iv) after discussion at specialist cancer genetics MDT
Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist
MDT with a cancer geneticist present
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a
genetic or genomic diagnosis will guide management for the proband or family.
Commissioning group
Specialised
Overlapping idications
• M7 Melanoma (adult) and M187 Uveal melanoma should be used for somatic testing
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old