What's More
The test is designed to cover not only the common hereditary cancers like breast or prostate, but also the rarer hereditary cancer types like Phaeochromocytoma and paediatric cancers such as Wilms tumor, including:
- All the clinically relevant exons
- Selected non-coding regions (BRCA1/2 5’ UTRs and the APC promoter)
- SNPs, SNVs, INDELs and CNVs
- Detection of mosaic copy number variations (such as APC and TSC2)
- Capability to accurately distinguish between PMS2 and PMS2CL pseudogene