During November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help! The Helsinki laboratory and EMEA Customer Support opening…Read more
Genetic testing for pediatrics
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.
Ear, Nose & Throat
Learn more about genetic testing in the pediatric field
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
- Genetic testing and screening in children
- Predictive and Pre-symptomatic Genetic Testing in Adults and Children
- ACMG - Ethical and policy issues in genetic testing and screening of children
- AAP - Ethical and Policy Issues in Genetic Testing and Screening of Children
- Genetic testing in asymptomatic minors
How to order
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.
Latest news and resources
Join this webinar to learn how the diagnosis, management and treatment of inherited cardiovascular disease has evolved over the last 10 yearsRead more
Defining Quality in Genetic Testing At Blueprint Genetics we continually strive to improve and expand on what quality can mean in the field of genetic diagnostics. Our belief in quality and our patient-centric mindset are the driving force behind our advanced technology, experience, and support. …Read more