Request / Find a test tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form