The era of personalized medicine--using our understanding of the genetic basis of disease to facilitate gene defect-targeted treatment--is in its infancy. Improvements in medical diagnostics are needed to reap the benefits of our improved knowledge of the human genome and the genetic causes of disease. At Tissue Genetics, our unique approach for genetic testing consists of gene-specific tissue screening tests using our proprietary platform technology. We have developed novel diagnostic tests to identify patients with genetic diseases which will help determine their optimum course of care.
Our invention allows identification and classification of genetic diseases by a unique analysis of tissue biopsy samples. The method detects genetic diseases by screening for truncated protein expression in affected tissues. This test can be used to quickly and accurately diagnose recessive genetic diseases such as muscular dystrophy and dominant inherited cancers such as breast and ovarian cancer. Having this important information allows critical decision making and proper medical management, ensuring an optimum course of care for the patient and their families.
Our diagnostic tests include proprietary, monoclonal antibodies for immunohistochemistry (IHC) screening to visualize the protein product of the gene, specifically to detect a protein truncation. This test will be done in our CLIA/CAP approved lab using conventional IHC techniques.
Our test specifically detects if the beginning of the protein (N-terminus) is present but the end (C-terminus) is absent. Why? Because hereditary gene mutation carriers have both normal and truncated proteins in normal tissue but only truncated proteins in cancer.
Finding a truncated protein in the cancer tissue confirms that there is a BRCA gene mutation, thereby indicating that the cancer is hereditary and the patient has a dramatically increased susceptibility of secondary cancers. This knowledge is critical for determining the proper therapeutic regimen and surgical intervention for the patient, as well as evaluating prevention measures for the patient and patient’s relatives.
Our proprietary, patent-pending diagnostic method can be used to quickly and accurately diagnose over 380 genetic diseases including:
- Breast and Ovarian Cancers (by analyzing the BRCA1 & BRCA2 genes)
- Colorectal Cancers (by analyzing the MLH1, MSH2 & MSH6 genes)
- Deschenes Muscular Dystrophy (by analyzing the Dystrophin gene)
...and many more.
