Clinical Indication ID & Name
Peutz Jeghers Syndrome
Test Group
Inherited cancer
Specialties
Test code
R212.1
Test name
N/A
Target genes
STK11
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the individual +/- family history meets one of the criteria.
1. ≥2 PJS-type hamartomatous polyps, OR
2. ≥1 PJS-type hamartomatous polyp and characteristic mucocutaneous pigmentation, OR
3. Characteristic mucocutaneous pigmentation age <10, OR
4. Sex cord tumours with annular tubules (SCAT) at any age
5. Adenoma malignum of the cervix at any age
6. ≥1 PJS-type hamartomatous polyp, AND ≥1 first / second degree relative with:
a. ≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives), OR
7. Characteristic mucocutaneous pigmentation, AND ≥1 first / second degree relative with:
a≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives)
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
PJS-like features: characteristic mucocutaneous pigmentation, PJS-type hamartomatous polyps.
PJS-related cancers: epithelial colorectal, gastric, pancreatic, breast, and ovarian cancers, sex cord tumors with annular tubules (SCTAT), adenoma malignum of the cervix, and Sertoli cell tumors (LCST) of the testes
Test code
R212.2
Test name
N/A
Target genes
STK11
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Living affected individual (proband) where the individual +/- family history meets one of the criteria.
1. ≥2 PJS-type hamartomatous polyps, OR
2. ≥1 PJS-type hamartomatous polyp and characteristic mucocutaneous pigmentation, OR
3. Characteristic mucocutaneous pigmentation age <10, OR
4. Sex cord tumours with annular tubules (SCAT) at any age
5. Adenoma malignum of the cervix at any age
6. ≥1 PJS-type hamartomatous polyp, AND ≥1 first / second degree relative with:
a. ≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives), OR
7. Characteristic mucocutaneous pigmentation, AND ≥1 first / second degree relative with:
a≥1 PJS-like feature, OR
b. ≥2 PJS-related cancers (the two cancers can be in the same or different relatives)
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
PJS-like features: characteristic mucocutaneous pigmentation, PJS-type hamartomatous polyps.
PJS-related cancers: epithelial colorectal, gastric, pancreatic, breast, and ovarian cancers, sex cord tumors with annular tubules (SCTAT), adenoma malignum of the cervix, and Sertoli cell tumors (LCST) of the testes
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
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