There are over 7000 clinically defined rare diseases; 75% of these affect children. Pediatric rare disease can sometimes be masked by common symptoms, leading to a lengthy diagnostic odyssey or a misdiagnosis. An early and accurate molecular diagnosis can improve outcomes in children with rare disease by guiding medical management and enabling targeted treatment.

Blueprint Genetics’ pediatric genetic testing offering includes testing for hereditary cardiovascular disorders such as congenital heart disease, neurodevelopmental disorders like epilepsy and autism, vision problems such as retinal dystrophy and cataracts, as well as syndromic and non-syndromic hearing loss.

Blueprint Genetics can help identify a molecular diagnosis in your pediatric patients by offering over 200 comprehensive, high-quality, expertly curated genetic tests for rare diseases, many of which have a childhood-onset.  Our all-inclusive genetic test report saves valuable clinician time by clearly outlining the evidence that supports the findings with links to peer-reviewed publications and relevant databases. Our genetic experts are available to support you with any questions you might have.

Pediatric patients with a more complex clinical presentation may benefit from our Whole Exome Sequencing (WES) testing option.

See below for a curated list of our tests most appropriate for pediatric genetic testing, or view our complete offering spanning 14 medical specialties here.

Blueprint Genetics’ mission is to shorten the path to diagnosis for patients and families affected by rare disease by providing comprehensive, quality genetic testing options.