Testing strategy
Clinically affected probands
R207.1 - analysis for small variants in the gene panel indicated below.
R207.2 - dosage analysis for copy number variants in the gene panel below (NHSE test indication requires analysis only of BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 but methodology used assesses dosage of all genes included in the panel).
Genes tested
Genes analysed are in accordance with the 'green' high evidence of clinical association gene list in panel app.
Targeted analysis for known / previously reported familial variants:
- Presymptomatic testing in clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)
- Diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
- Segregation studies in affected family members to aid variant interpretation (R375)
- Prenatal diagnosis is not typically requested
Sample requirements and referral information
Requesting specialty: Clinical Genetics
Specimen requirements and referring samples
Price list for non NHSE referrals (pdf)
