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.
Hereditary cancer syndromes account for approximately 5%–10% of all cancer. When multiple relatives on the same side of the family have the same or related forms of cancer, present with cancer at an early age, or multiple cancers present in an individual, hereditary cancer is suspected. The most common inherited cancer syndromes are hereditary breast and ovarian cancer syndrome, Lynch syndrome (also known as hereditary non-polyposis colorectal cancer), Li-Fraumeni syndrome, Cowden syndrome, familial adenomatous polyposis, Von-Hippel Lindau syndrome, and multiple endocrine neoplasia type 1 and type 2. Most of the hereditary cancer syndromes are inherited in an autosomal dominant manner and penetrance is high.
Genetic testing is the most effective way to identify individuals with a genetic predisposition toward developing cancer. The risk of developing breast cancer is 65% for BRCA1 mutation carriers, and patients with Lynch syndrome have a 78% lifetime risk of developing colorectal cancer.
Genetic diagnostics makes personal cancer risk assessment possible, and knowing the inherited genetic defect can be useful when planning the treatment or follow-up of both unaffected and affected family members. Cancer mortality can be significantly reduced in high-risk patients through regular examination and preventive strategies. For example, colonoscopic screening at 3-year intervals cuts the colorectal cancer risk by more than half, prevents deaths, and decreases the overall mortality by about 65% in Lynch syndrome families (PMID: 10784581). Moreover, multi-gene panels can provide genetic diagnostics for patients with an atypical phenotype or family history of multiple cancers. Additionally, genetic diagnosis can help in family planning.
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.
In this educational webinar, Dr Xiangling Wang, MD, PhD, will discuss the important role of genetics in the diagnosis of kidney disease. The webinar aims to improve clinicians’ and researchers’ understanding of genetic kidney disorders to help their daily practice.
Read moreNew Ora-Collect OCR-100/OCD-100 buccal swabs will be available for healthcare providers to order through our website or online portal, Nucleus. This new specimen collection kit addresses the need for more accessible sample collection, especially for pediatric patients or when collecting sufficient sample volume with a traditional saliva kit is otherwise challenging.
Read moreLas variantes de significado incierto (VUS) a menudo se consideran resultados no deseados en las pruebas genéticas. ¿Qué pasos podemos seguir para entender mejor este tipo de variantes? En este seminario web, la Dra. Raquel Pérez Carro, genetista en Blueprint Genetics, presentará en detalle cómo interpretar y clasificar las variantes de significado incierto y los próximos pasos a considerar para obtener una posible reclasificación.
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