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

R214

Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome

Test Group

Inherited cancer

Specialties

Clinical Genetics Dermatology

Test code

R214.1

Test name

N/A

Target genes

PTCH1;SUFU

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

1. Living individual affected (proband) where the individual history meets:
a. ≥ 1 major OR
b. ≥ 2 minor criteria
2. Major criteria:
• Lamellar (sheet-like) calcification of the falx or clear evidence of calcification in an individual younger than age 20 years
• Jaw keratocyst: odontogenic keratocyst histologically
• Palmar/plantar pits (two or more)
• SHH medulloblastoma, confirmed on tumour testing
• Multiple basal cell carcinomas (BCCs) (>5 under 50)

3. Minor criteria:
• Childhood medulloblastoma where SHH pathway in tumour has not been investigated (also called primitive neuroectodermal tumor [PNET])
• Lympho-mesenteric or pleural cysts
• Macrocephaly (OFC >97th centile)
• Cleft lip/palate
• Vertebral/rib anomalies observed on chest x-ray and/or spinal x-ray; bifid/splayed/extra ribs; bifid vertebrae
• Preaxial or postaxial polydactyly
• Ovarian/cardiac fibromas
• Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retinal epithelium)

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

Test code

R214.2

Test name

N/A

Target genes

PTCH1;SUFU

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Living individual affected (proband) where the individual history meets:
a. ≥ 1 major OR
b. ≥ 2 minor criteria
2. Major criteria:
• Lamellar (sheet-like) calcification of the falx or clear evidence of calcification in an individual younger than age 20 years
• Jaw keratocyst: odontogenic keratocyst histologically
• Palmar/plantar pits (two or more)
• SHH medulloblastoma, confirmed on tumour testing
• Multiple basal cell carcinomas (BCCs) (>5 under 50)

3. Minor criteria:
• Childhood medulloblastoma where SHH pathway in tumour has not been investigated (also called primitive neuroectodermal tumor [PNET])
• Lympho-mesenteric or pleural cysts
• Macrocephaly (OFC >97th centile)
• Cleft lip/palate
• Vertebral/rib anomalies observed on chest x-ray and/or spinal x-ray; bifid/splayed/extra ribs; bifid vertebrae
• Preaxial or postaxial polydactyly
• Ovarian/cardiac fibromas
• Ocular anomalies (cataract, developmental defects, and pigmentary changes of the retinal epithelium)

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

n/a

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