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JR

Juhana Rauramo

Vice President and General Manager

Blueprint Genetics

Therapeutic Areas

CardiologyDermatologyEndocrinologyGastroenterologyHematologyHereditary CancerImmunologyMetabolic DisordersMitochondrial DisordersNephrologyNeurologyOphthalmologyPediatricsPulmonologyEar, Nose & ThroatMalformations

Blueprint Genetics Pipeline

DrugIndicationPhase
Whole Exome Sequencing (WES) & WES TrioBroad genetic diagnostics for rare diseasesCommercial
FMR1 Repeat Expansion TestingFragile X syndrome and related disordersCommercial
Custom Panel DevelopmentTailored genetic testing panelsCommercial
Variant Reevaluation ServiceRe-analysis of prior genetic findingsService
VUS Clarification ServiceClarification of Variants of Uncertain SignificanceService