Malformations

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.

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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

Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year

Oct 18, 2019

Blueprint Genetics is adding over 400 genes to 138 panels and introducing an improved clinical-grade Next Generation Sequencing assay for panels, single genes and variant specific testing. This update includes a number of recently discovered, clinically relevant deep intronic and regulatory variants and will facilitate the introduction of mitochondrial…

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Webinars

Introducing an open access genetic testing program for patients with inherited retinal degeneration

Oct 15, 2019

In this webinar, we will provide an overview of how the program works, describe the genetic counseling services provided to patients, outline the data privacy and data sharing policies, as well as highlight the benefits of enrolling in the MRT Patient registry. We will also provide an update on the new and updated Retinal Dystrophy Panel (‘My Retina Tracker’ Panel) offered through this program.

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Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States

Oct 02, 2019

Beginning in October 2019, this new program offers patients with inherited retinal disease (IRD) access to no-cost genetic testing and genetic counseling in the United States. The program will streamline clinical workflow by providing the highest possible diagnostic yield, enabling faster and more straightforward follow-ups to patients.  The new program…

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