Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R422

BAP1 associated tumour predisposition syndrome

Test Group

Inherited cancer

Specialties

Clinical Genetics Dermatology Oncology

Test code

R422.1

Test name

N/A

Target genes

BAP1

Test scope

n/a

Test method/ technology

Single gene sequencing >=10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Individual (proband) affected with either:
1. BAP1 deficient mesothelioma or mesothelioma diagnosed under 50 years if BAP1 status unknown
OR,
2. BAP1-inactivated melanocytic tumors (BIMT) (Also known as BAPoma, atypical Spitz naevus,
Melanocytic BAP1-associated intradermal tumor (MBAIT) or nevoid melanoma-like melanocytic proliferation (NEMMP) OR
3. Personal history of two or more BAP1 associated tumours* OR
4. Individual affected with BAP1 associated tumour and FDR affected with BAP1 related tumour*
* Excluding combination of basal cell cancers and/or cutaneous melanomas alone, given their high frequency in the general population

BAP1 associated tumours= uveal melanoma, cutaneous melanoma, basal cell cancer, BAP1-inactivated melanocytic tumors (BIMT), malignant mesothelioma (lung or peritoneal), renal cell carcinoma, meningioma, cholangiocarcinoma or hepatocellular carcinoma.

Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Test code

R422.2

Test name

N/A

Target genes

BAP1

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Individual (proband) affected with either:
1. BAP1 deficient mesothelioma or mesothelioma diagnosed under 50 years if BAP1 status unknown
OR,
2. BAP1-inactivated melanocytic tumors (BIMT) (Also known as BAPoma, atypical Spitz naevus,
Melanocytic BAP1-associated intradermal tumor (MBAIT) or nevoid melanoma-like melanocytic proliferation (NEMMP) OR
3. Personal history of two or more BAP1 associated tumours* OR
4. Individual affected with BAP1 associated tumour and FDR affected with BAP1 related tumour*
* Excluding combination of basal cell cancers and/or cutaneous melanomas alone, given their high frequency in the general population

BAP1 associated tumours= uveal melanoma, cutaneous melanoma, basal cell cancer, BAP1-inactivated melanocytic tumors (BIMT), malignant mesothelioma (lung or peritoneal), renal cell carcinoma, meningioma, cholangiocarcinoma or hepatocellular carcinoma.

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

• R254 Familial melanoma • R214 Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome • R224 Inherited renal cancer

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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