NEW YORK (GenomeWeb) – Sophia Genetics today said that it has received the CE-IVD mark for genetic testing of familial Mediterranean fever and hypercholesterolemia, enabling the tests to be offered in the European Union and other nations that accept the CE mark for marketing.
The tests are based on next-generation sequencing data and employ the Lausanne, Switzerland-based firm's NGS bioinformatics pipeline.
Sophia's pipelines, which are fully automated and execute DNA sequence assembly, alignment to a reference genome, variant calling, and variant annotation, obtained the CE-IVD mark for routine genetic testing earlier this month.
Familial Mediterranean fever is an inherited inflammatory disorder that causes recurrent fevers and inflammation of the abdomen, lungs, and joints. It usually affects people of Mediterranean origin.
Hypercholesterolemia is characterized by very high levels of cholesterol in the blood and can be inherited. Mutations in several genes, including APOB, LDLR, LDLRAP1, and PCSK9, cause the disease.