Clinical Indication ID & Name
Inherited ovarian cancer (without breast cancer)
Test Group
Core
Specialties
Test code
R207.1
Test name
N/A
Target genes
Inherited ovarian cancer (without breast cancer) (143)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
1. High grade non mucinous epithelial ovarian cancer (EOC) at any age
OR
2. Epithelial ovarian cancer (EOC) AND
a. ≥1 first degree relative with EOC, OR
b. ≥1 second degree relative with EOC (intervening relative is male, OR female with BSO, OR female deceased) OR
c. ≥2 second / third degree relatives with EOC
3. Deceased affected individual (proband) where criteria 2 are reached (or family Manchester score of 20) and:
a. Appropriate tissue is available (tumour or normal) AND
b. No living affected individual is available for genetic testing
NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed
Test code
R207.2
Test name
N/A
Target genes
Inherited ovarian cancer (without breast cancer) (143)
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. High grade non mucinous epithelial ovarian cancer (EOC) at any age
OR
2. Epithelial ovarian cancer (EOC) AND
a. ≥1 first degree relative with EOC, OR
b. ≥1 second degree relative with EOC (intervening relative is male, OR female with BSO, OR female deceased) OR
c. ≥2 second / third degree relatives with EOC
3. Deceased affected individual (proband) where criteria 2 are reached (or family Manchester score of 20) and:
a. Appropriate tissue is available (tumour or normal) AND
b. No living affected individual is available for genetic testing
NOTE: The proband’s cancer and majority of reported cancers in the family should have been confirmed
Commissioning group
Core
Overlapping idications
• M2 Ovarian carcinoma should be used for somatic testing
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
Rare Disese WGS Clinician pack
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