Our panels include over 2600 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.
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 morePublished 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…
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