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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Blueprint Genetics is maximising diagnostic yield by adding all clinically actionable non-coding variants into our Panels

Published on September 13, 2017

Gene Panels have revolutionised clinical diagnostic testing. However, for proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Disease-causing non-coding variants may include for example deep intronic variants that create cryptic splice sites that result in aberrant mRNA transcripts.

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