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.
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In this webinar, Clinical Genomic Liaison, Torry Howell, MS, CGC will review the use of genetic testing in IEIs and advise on how to maximize quality and patient care when ordering genetic testing.
During November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help! The Helsinki laboratory and EMEA Customer Support opening…
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Order a specimen kit
Please be advised that we only accept specimen collection kit requests from medical professionals.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf. You can order up to 10 kits per type and 30 kits total. If you need more kits, please contact our customer support team.