Our panels include over 3,000 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 Mortier et al. (Nosology and Classification of Genetic Skeletal Disorders: 2019 Revision; PMID: 31633310).
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.
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.
Juhana Rauramo, a 20-year veteran of the diagnostics industry in Finland, has joined Quest Diagnostics as vice president and general manager for the company’s Helsinki-based Blueprint Genetics business, reporting to Mark Gardner, SVP, Oncology & Genomics. Based in Helsinki, Finland, Juhana will lead Blueprint Genetics’ business strategy for EMEA and rest-of-world markets. Mr Rauramo will also serve as managing director for the company and work closely with cross-functional partners and US colleagues as it aligns with Blueprint’s genomics products, service, and technology strategies.
We are excited to announce our latest update of adding over 14,000 new genes to our current list of 3,600 genes available for diagnostic panel customization As the field of genetics is constantly evolving and changing, we want to ensure that the healthcare professionals…
Summary The yield of genetic testing in patients with hereditary neuropathy (HN) has not consistently included the mitochondrial genome (MG). To address this, we performed a retrospective review of 661 reports from individuals suspected of having HN who had multi-gene panel testing (MGPT) at Blueprint Genetics. One of every four…
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