The Blueprint Genetics Neuronal Migration Disorder Panel is a 47 gene test for genetic diagnostics of patients with clinical suspicion of neuronal migration disorder.Read more
MalformationsWe offer comprehensive genetic diagnostics for malformations. Our panels cover a broad spectrum of connective tissue and skeletal disorders. These syndromes can manifest as isolated defects, growth abnormalities, and malformations that are present in the entire body. Some of our panels target organ-specific disorders such as Hirschsprung disease and gastrointestinal atresias, cerebral cavernous malformations, and neurofibromatosis.
Genetic testing for malformations
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.
A selection of our malformations panels
The Blueprint Genetics Septo-Optic Dysplasia Panel is a four gene test for genetic diagnostics of patients with clinical suspicion of septo-optic dysplasia (SOD).Read more
The Blueprint Genetics Fetal Akinesia Deformation Sequence / LMPS / Related Disorder Panel is a 10 gene test for genetic diagnostics of patients with clinical suspicion of fetal akinesia.Read more
Find the right test for your patient
Published on July 21, 2017
Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…Read more
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more