Malformations | Blueprint Genetics

Time 2021-01-03 09:04:21

Web Name: Malformations | Blueprint Genetics

WebSite: http://malformations.blueprintgenetics.com

ID:155052

Keywords:

Malformations,Blueprint,Genetics,

Description:

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.What genetic diagnostics can offer patients with hereditary malformationsGenetic 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. Webinars From Data to Insights: How WES Variants are Interpreted and Classified Dec 21, 2020 During this educational webinar, Senior Geneticist Dr Kirsty Wells and Laboratory Director Dr Jennifer Schleit will provide an overview of the analysis and interpretation process with a focus on exome analysis. From data analysis to variant interpretation, we will describe how the patient’s genetic information is decoded to provide actionable insights to guide medical management. The Helsinki laboratory and Customer Support opening hours during the holidays: Wednesday, December 23, 2020: 8am 5pm GMT+2 Thursday, December 24, 2020: Closed Friday, December 25, 2020: Closed Monday, December 28 to Thursday, December 31, 2020: 8am 5pm GMT+2 Friday, January 1, 2021: Closed Wednesday, January 6, 2021: Webinars Understanding Skeletal Dysplasias—Recent Advances in Genetics Nov 24, 2020 In this educational webinar, Clinical Liaison  Alicia Scocchia, MS, CGC, will review molecular causes of skeletal dysplasias and discuss genetic testing considerations. We will also share our experience at Blueprint Genetics with diagnostic panel testing for individuals with these conditions. Case examples will be explored highlighting complex clinical presentations and the involvement of copy number variants in diagnostic findings.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.Deliver kit to patientDeliver kit to patient

TAGS:Malformations Blueprint Genetics 

<<< Thank you for your visit >>>

Blueprint Genetics offers comprehensive genetic diagnostics for malformations. Our panels cover a broad spectrum of connective tissue and skeletal disorders

Hot Websites