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Genetic Screening Tests

Genetic screening tests involve identifying changes in chromosomes, genes or proteins, which can help provide insight into the development of diseases caused by genetic traits passed from generation to generation. Genetic testing allows us to analyze your DNA to confirm or rule out a suspected genetic condition or assess your risk of developing or passing on a genetic disorder.

Not everyone is a candidate for genetic testing. Your personal medical history and your family history can provide the necessary information to determine: 1) whether there is a genetic test available for the disease in your family and 2) whether genetic testing is an option for you to consider.

Should you decide to proceed with genetic testing, the Center for Medical Genetics will help make all of the necessary arrangements and ensure that your testing is confidential. Payment for genetic testing goes directly to the specific laboratory performing the testing. Insurance companies may or may not cover the cost of genetic testing. We can help guide patients on their options as many labs offer patient protection plans that limit out-of-pocket costs.

The cost of genetic testing typically ranges from approximately $350 to $4,000 depending on the type of testing being performed. If a genetic mutation is identified in an individual, the genetic screening cost to other family members usually drops significantly. 

We also discuss federal and state legislative protections and potential gaps regarding genetic information. For more information on the regulation of genetic tests, please see the Genetic Information Nondiscrimination Act (GINA).

Genetic tests are currently available for the following conditions and many others:

  • Cancer including breast, ovarian, colon, pancreas, thyroid, skin, sarcoma, brain, prostate, uterus, bladder, kidney, stomach, pheochromocytoma and others
  • Movement Disorders like Huntington disease, Parkinson disease, dystonia and spinocerebellar ataxias
  • Cardiac Disease including long QT syndrome, certain cardiomyopathies and dyslipoproteinemias and others
  • Muscular Dystrophies like Duchenne muscular dystrophy, Becker muscular dystrophy and myotonic dystrophy
  • Blood Disorders including hemophilia, inherited thrombophilias (e.g., factor V Leiden), sickle cell disease, alpha and beta thalassemias and others
  • Known Genetic Conditions like neurofibromatosis, Marfan syndrome, hemochromatosis, polycystic kidney disease and cystic fibrosis

Genetic testing may involve different approaches depending on the type of information we are seeking to address your health concerns. The identification of some conditions may only require a genetic test targeted at a single gene. We also have the capability to perform whole exome sequencing. This advanced technique allows us to look at multiple genes at once for a genetic explanation for a patient’s health condition when traditional approaches fail to provide answers.

Data gleaned from genetic testing can serve as a valuable resource and we encourage you to share the information with others in your family.