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Clinically affected probands:
R211.1 - analysis for small variants in the gene panel indicated below
R211.2 - dosage analysis for copy number variants in the gene panel below (NHSE test indication requires analysis only of APC, but methodology used assesses dosage of all genes included in the panel)
NHSE funded test referrals should meet the relevant NHSE eligibility criteria (pdf).
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:
Requesting specialty: Clinical Genetics
Specimen requirements and referring samples
Price list for non NHSE referrals (pdf)
Email: oxfordcancergenetics@nhs.net