Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. mtDNA disorders can come with a range of symptoms such as fatigue, exercise intolerance, hearing loss, seizures, strokes, heart failure, diabetes, and kidney failure. There are approximately 120 mitochondrial disorders described affecting 1 in 5000 individuals worldwide.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
Who We Are Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community across 14 medical specialties. Blueprint Genetics is based in Helsinki and Seattle, with a customer base spanning over 70 countries.Read more
In this presentation, Christèle du Souich, MSc, CGC, CCGC, reviews different types of testing platforms and what to consider when choosing a genetic test for your patient. Through case examples, the step-by-step process and the related key challenges and potential solutions will be presented.Read more