As a molecular geneticist, my goal is to minimize the number of VUSs reported as primary findings and ensure that we clearly define those in the report that are the most suspicious and have the greatest potential to be clinically relevant, writes senior geneticist Eija Seppälä in her blog.Read more
Genetic testing for malformations
Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Inherited skeletal diseases are difficult to subtype and classify into categories. The design and gene selection of our skeletal disease panels follows Bonafe et al. (Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision; PMID: 26394607).
In addition to many disorder-specific panels, larger disease groups are also targeted. Specifically, our Macrocephaly/Overgrowth Syndrome Panel and Microcephaly and Pontocerebellar Hypoplasia Panel are suitable for patients with abnormalities in skull structure and symptoms that substantially overlap with neurological diseases. Similarly, our Neuronal Migration Disorder Panel covers a broader set of genes related to holoprosencephaly, lissencephaly, and polymicrogyria. Additionally, our Comprehensive Skeletal/Malformation Syndrome Panel covers all genes included in the unique panels, providing maximal differential diagnostic power in the field.
What genetic diagnostics can offer patients with hereditary malformations
Genetic diagnostics is the most efficient way to subtype these diseases and provide the necessary information to make confident individualized treatment and management decisions. Moreover, identifying the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Additionally, genetic diagnosis can help in family planning.
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
Open Access Genetic Testing Program for Patients with Inherited Retinal Disease – Workshop for Eye Care Professionals
The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers an open access, no-cost genetic testing program called the My Retina Tracker Program®. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). In this webinar-workshop, we will review the program features and the online ordering process.Read more
El equipo de Blueprint Genetics no está ajeno al reto de resolver casos complejos. Durante este seminario web, la Dra. Rocío Sánchez Alcudia, genetista en Blueprint Genetics, describirá, a través de ejemplos de casos pediátricos, algunos de los desafíos más recientes a los que se ha enfrentado nuestro equipo para llegar a un diagnóstico molecular.Read more