Blueprint Genetics introduces Carrier Screening DUO Tests - the combined result of two tested individuals, to help detect if a couple is at increased risk of having a child with a specific genetic disorder.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
Discover the clinical relevance of genes that pose sequencing challenges and their unique potential to impact patient outcomes.Read more
Blueprint Genetics introduces the new Screening Tests family – giving actionable insights for family planning, and future health
The major new portfolio expansion will answer the ever-increasing demand for genetics evaluations for conceiving couples and healthy individuals and provide medically actionable results. While genetic diagnostic tests for affected individuals are a great tool for finding out the cause of…Read more