Inherited Disease MDx
Predict, Prepare, Prevent!
As research continues to gain new insight into the role of genes in various diseases, including cancer, we now can test for certain genes known to increase risks for birth defects, cancers, heart disease, and many other maladies. Identification of predisposition mutations allow a proactive approach to inform the decision making process, proactively assess treatment options, and help reduce the risk of developing a deadly disease later in life.
Genome Explorations cancer predisposition profile provides essential information for patients with a personal or family history of cancer. Identification of potential cancer risk is the first step in determining the best way to possibly delay, or even prevent, the development of certain cancers. Predisposition Targeted Panel is a multiplexed PCR-based assay for targeted enrichment of the coding (exonic) regions of the 145 genes commonly mutated in 88 inherited oncogenic diseases
Cardiomyopathy refers to disease of the heart. Cardiomyopathy can have many causes including genetic mutation. Genome Explorations provides an extensive look at the genetic mutations associated with inherited cardiomyopathy including:
- Hypertrophic cardiomyopathy(HCM or HOCM)
- Dilated cardiomyopathy (DCM)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
CFTR stands for Cystic Fibrosis Transmembrane Conductance Regulator. The CFTR protein is essential in for salt and water balances on epithelial surfaces such as the lung and pancrease. In cystic fibrosis, mutations affect the the mucus layer lining the epithelial surfaces in the lungs and pancreas. Well over one thousand mutations have been described that affect the CFTR gene in different ways.
GenHet Carrier Testing Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of 164 genes mutated in the most deleterious and most prevalent (at least 5 in one million) recessively (autosomal or X-linked) inherited disorders. Carrier testing checks whether both parents planning to conceive children carry recessive mutations for the same disease(s), which could be inherited by the children. Causal mutations in the disease-associated genes are known for many but not all of these diseases.