The genetic makeup of an individual is responsible for their unique characteristics and traits. Mutations or alterations within a person’s genome can have significant health consequences and can also impact the way a person responds to prescription medications.
GenMark offers multiplex molecular panels that address a wide variety of clinical needs in the area of genetic testing. The following information is provided as an educational resource only.
Cystic Fibrosis (CF)
Cystic fibrosis is a genetic disorder caused by mutations, or alterations, of the cystic fibrosis transmembrane conductance (CFTR) gene. There are more than 1,700 known mutations that have been associated with CF. To have CF, a person must inherit two copies of the CF gene with mutations, where one gene is inherited from each parent. CF results in abnormally thick mucus that causes difficulty breathing, recurrent lung infections, and digestive disorders.
CF is a life-threatening illness and is one of the most common inherited diseases. About 30,000 people and adults in the United States (70,000 worldwide) are living with CF and 1,000 new cases of CF are diagnosed annually. Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation.1
Thrombophilia is a condition that involves an increased risk of blood clot formation or thrombosis. Inherited thrombosis is associated with congenital predisposing risk factors such as Factor II (Prothrombin, FII) and Factor V (Leiden, FV) proteins involved in the blood coagulation enzyme activity cascade and Methylenetetrahydrofolate Reductase (MTHFR) that converts homocysteine to methionine, an amino acid used to build proteins.2-4 Complications of thrombosis can include serious complications such as stroke, heart attack, and serious breathing problems.5
1. Cystic Fibrosis Foundation, http://www.cff.org/AboutCF/Faqs/
2. Poort, S.R. et al. (1996). A Common Genetic Variation in the 3′-Untranslated Region of the Prothrombin Gene is Associated with Elevated Plasma Prothrombin Levels and an Increase in Venous Thrombosis. Blood, 88(10), 3698-3703.
3. Bertina, R.M. et al. (1994). Mutation in Blood Coagulation Factor V Associated with Resistance to Activated Protein C. Nature, 369(6475), 64–67.
4. Botto, L.D. and Yang, Q. (2000). 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) Gene Variants and Congenital Anomalies: A HuGE Review. American Journal of Epidemiology, 151(9), 862-877.
5. Thrombosis. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/conditions-and-diseases/thrombosis (date accessed: January 2021)