Next Generation Sequencing

Next Generation Sequencing (NGS) is a technology used to detect genetic alterations in an individual such as mutations, insertions/deletions, rearrangements, amplifications, and expressions. The purpose of sequencing for clinical work is to help decide on treatment.

Cardiomyopathy Panel

What is a Cardiomyopathy Panel?
A Cardiomyopathy Panel examines 66 genes associated with hereditary cardiomyopathies including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), Left ventricular non-compaction cardiomyopathy (LVNC), and hereditary arrhythmogenic right ventricular cardiomyopathy (ARVC). Patients identified with a hereditary cardiomyopathy can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include lifestyle changes, medications, implantable devices, medical procedures, and surgery. A patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Testing
Testing is done for patients with personal and/or family history suggestive of a hereditary cardiomyopathy. Warning signs for hereditary cardiomyopathies can include, but are not limited to, episodes of chest pain, dizziness, fatigue, abnormal heart rate, shortness of breath, swelling of the extremities, and weight gain. Cardiomyopathies can affect patients of all ages.

Familial Hypercholesterolemia Panel

What is Familial Hypercholesterolemia?
The Familial hypercholesterolemia (FH) panel examines 4 genes associated with FH: APOB, LDLR, LDLRAPl, and PCSK9. Patients identified with FH can benefit from increased surveillance and preventative steps to better manage their risk. Medical intervention can include combination medication therapy, low-fat diet, exercise, weight control and not smoking.

Testing
Testing is done for patients with a personal or family history suggestive of a Familial Hypercholesterolemia. Warning signs can include, but are not limited to, high cholesterol levels, very high levels of low-density lipoprotein, and cardiovascular disease.

Parkinsons Alzheimers Dementia Panel

What is Parkinsons Alzheimers Dementia?
The Parkinsons Alzheimers Dementia Panel examines 35 genes associated with an increased risk of developing neurodegenerative conditions: Parkinson disease, Alzheimer disease, and genetic disorders that cause dementia. Patients identified with a disease-causing change in a gene have an increased risk of developing the associated neurodegenerative disease. Genetic testing may be beneficial in planning and deciding on treatment, psychosocial counseling, research study enrollment, and support programs for caregivers and patients.

Testing
Testing is done for patients with a personal or family history suggestive of Parkinson disease, Alzheimer disease, and dementia. Warning signs of these diseases include abnormal imaging of the brain, difficulty moving or controlling one’s movements, memory loss that interferes with daily life, changes in mood and personality, difficulty having a conversation or completing familiar tasks and confusion with the time or place.

Diabetes Obesity

What is the Diabetes Obesity Panel?
The Diabetes-Obesity Panel examines 56 genes associated with Diabetes and obesity. Patients identified with a disease-causing change in a gene may benefit from increased surveillance, targeted and personalized management, and preventative steps to better manage their risk. Medical intervention can include lifestyle changes in diet and exercise, hormone replacement, and bariatric surgery. If a pathogenic variant is identified in a patient, close relatives are up to 50% more likely to be at increased risk.

Testing
Testing is for patients with a personal or family history suggestive of monogenic diabetes and obesity related disorders. These conditions may occur independently or as clinical features of a genic syndrome.