Clinical Indication ID & Name
Ovarian Carcinoma
Test Group
Solid Tumours (Adult)
Specialties
Test code
M2.1
Test name
Multi-target NGS panel - small variant (BRCA1, BRCA2, SMARCA4)
Target genes
BRCA1, BRCA2, SMARCA4
Test scope
Small variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Known high grade serous ovarian carcinoma or In cases of diagnostic uncertainty of small cell carcinoma of the ovary
Test code
M2.3
Test name
Multi-target NGS panel - structural variant (NTRK1, NTRK2, NTRK3)
Target genes
NTRK1, NTRK2, NTRK3
Test scope
Structural variant detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient’s clinical status means they are eligible for an NTRK inhibitor in the event an NTRK rearrangement is detected
Test code
M2.5
Test name
HRD status (either positive for BRCA 1 and/or 2, or HRD positive)
Target genes
BRCA1/2 and/or genomic instability
Test scope
Mutational signature detection
Test method/ technology
Panel
Optimal Family Structure
n/a
Eligibility Criteria
Patient is eligible for first line treatment and has a diagnosis of high grade ovarian cancer
Commissioning group
n/a
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
Cancer 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