In most cases, you will work closely with your healthcare provider to determine which tests are right for you. There are many panels to choose from, but your testing can be narrowed to select panels that you and your physician feel are right for you. For instance, your physician will determine if a full hereditary cancer panel, an internist panel, or a BRCA 1 & BRCA 2 panel will make sense based on your personal or family history. Most common testing is a full hereditary panel, which tests as many as 106 genes associated with higher risk cancers, heart disease, and your body's response to certain medications.
Many common cancers are considered "hereditary." Hereditary cancers are caused by gene mutations that people are born with; passed down to them from either their mother or their father. Laboratory tests performed with a simple saliva mouth swab can analyze a person's genes to determine if they carry an inherited mutation in a gene associated with an increased risk for cancer. Genetic testing in people already diagnosed with cancer can also determine if their cancer was caused by an inherited mutation.
Pharmacogenetics is the study of how genes affect the body's response to certain medications or other environmental factors that may cause bad side effects. Genes carry information that determines your unique traits, such as height and eye color. Your genes can also affect how safe and effective a particular drug could be for you. Your health care provider will see which medications will work well for you, and which could be potentially harmful or dangerous before you start taking them. It basically becomes a cheat sheet for your doctor, and in turn your doctor can make a very personalized treatment plan to help keep you healthy.
Testing is actually more convenient than you may think. It's typically completed using an oral collection swab to gather saliva or by gathering blood. If blood work is necessary, we send a licensed phlebotomist, at your convenience, to your home (or a place of your choosing). The appointment should only take about 20-25 minutes, and you’ll get the results back within just a couple weeks.
Pharmacogenetic testing may be used to:
PGX testing is easy, convenient and is covered by Medicare, some Medicaid, and Medicare Advantage PPO plans with little to no out-of-pocket cost. Keep in mind that not all medications are available for tests. Consult with your healthcare provider or one of our specialists for more details.
Cardiomyopathy can be an inherited genetic condition which may
be passed from one family member to the next. Symptoms of the disease can develop as early as
infancy, but typically only show during mid-adulthood. The three main types of cardiomyopathy include dilated, hypertropic and restrictive cardiomyopathy. All of which can cause the
heart muscle to become enlarged, thick or rigid, and in rare cases scarred.
It makes it harder for the heart muscle to pump blood to the rest of the body,
which in severe cases can lead to heart failure. The severity of the condition
varies among affected individuals, even in members of the same family.
Signs and symptoms of cardiomyopathy include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases the first sign of the disease is sudden cardiac death.
Cardiomyopathy screening provides a comprehensive analysis of 106 genes associated with inherited cardiomyopathy conditions. Comprehensive genetic testing enables a more efficient evaluation of the disease, given the overlap of multiple conditions within the diagnosis.
Cardiomyopathy testing may be used to:
Cardiomyopathy testing is easy, convenient and is covered by Medicare, some Medicaid, and Medicare Advantage PPO plans, with little to no out-of-pocket cost. Consult with your healthcare provider or one of our specialists for more details.
Carrier screening is recommended by OBGYNs for all women who are considering pregnancy or are currently pregnant, regardless of whether or not there is a history of genetic diseases in the family. Carrier testing is used to determine if partners are carriers for certain recessive genetic diseases and the likelihood of those diseases being passed down to their child.
Common genetic diseases that are detected by carrier screening include;
Spinal muscular atrophy: a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles);
Cystic fibrosis: an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.
Fragile X syndrome: a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment and is the most common cause of intellectual disability
Thalassemia: an inherited blood disorder in which the body makes an abnormal form of hemoglobin. The disorder results in excessive destruction of red blood cells, which leads to anemia, with varying severity based on the type of thalassemia.
Tay-Sachs disease: a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord.
More than 80% of children with a genetic disease are born to parents with no family history of the disease.
Carrier testing may be used to:
Carrier screening is easy, convenient, and is covered by most commercial and private health care insurance plans with little to no out-of-pocket cost. Consult with your healthcare provider or one of our specialists for more details.