Finnish Rare Disease Congress

Harvinaiset Sairaudet

Blueprint Genetics is participating in the Finnish Rare Disease Congress In Helsinki.

Laboratory Director, Juha Koskenvuo, from Blueprint Genetics will give a talk about benefits of genetic diagnostics and enlighten how individualized genetic diagnostics will accelerate the whole diagnostic process of a patient with a rare disease.

There is increasing amount of tests available in the market, thus the ordering physician should have the knowledge what is the clinical utility of each test and understand the potential pitfalls of applied technologies. Genetic diagnostics with next-generation sequencing applications are complex processes, sensitive for both errors and misinterpretations, thus diagnostic laboratory should have comprehensive quality control system, preferably accreditation. Only validated tests should be used for clinical diagnostics if available as they have known performance enabling correct test selection that finally maximize number of right diagnosis.

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