New panels for diagnosing hereditary cancer 

Published on April 25, 2017

We are now providing a more targeted panel for high risk breast cancer diagnostics. The Hereditary Breast Cancer High Risk Panel analyzes seven genes associated with inherited susceptibility to breast cancer. We have also added a new 27-gene panel to our test menu for diagnosing inherited susceptibility to breast and gynecological cancer.

 

Hereditary Breast Cancer High Risk Panel

Breast cancer is the most common cancer in women. While majority of the breast cancers are sporadic, 5-10% of breast cancer cases are caused by pathogenic germline mutations in cancer susceptibility genes. The inheritance pattern of these genetic cancer susceptibility conditions is predominantly autosomal dominant. The Hereditary Breast Cancer High Risk Panel is suited for detecting heritable germline mutations.

 

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Hereditary Breast and Gynecological Cancer Panel

Gynecological cancers are originating in the female reproductive organs and include cervical, ovarian, uterine, vaginal, and vulvar cancers. Breast and gynecological cancers are usually sporadic but 5-10% of the disease onset is caused by pathogenic mutations in cancer susceptibility genes. Inheritance pattern of these genetic cancer predisposition conditions is autosomal dominant. The Hereditary Breast and Gynecological Cancer Panel is suited for detecting heritable germline mutations and may not be used for the detection of somatic mutations in tumor tissue.

 

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Last modified: 06.27.2017

News

Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Published on April 30, 2018

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…

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