Pipetting Samples

GENETIC RISK

PARKINSON ALZHEIMER's DEMENTIA

Who is this test for?

Patients with a personal and/or family history of Parkinson’s disease, Alzheimer’s disease, and dementia. Warning signs of these diseases include, but are not limited to, abnormal imaging of the brain, difficulty moving or controlling one’s movement, 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.
 

What are the potential benefits for my patient?

Patients identified with a disease-causing change (a pathogenic or likely pathogenic variant) in a gene on this panel have an increased risk of developing the associated neurodegenerative disease. Genetic testing may be beneficial in the planning and decision-making process for treatment, psychosocial counseling, research study enrollment, and support programs for caregivers and patients. Your patient’s family members can also be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, and parents) are up to 50% more likely to also be at increased risk.

 

Initial clinical symptoms of Parkinson’s disease include the following:

1. Early:

  • Decreased facial expression

  • Sleep disturbances

  • Abnormal eye movement

  • Sensory disturbances e.g. decreased sense of smell

  • Symptoms of autonomic dysfunction (constipation, sweating abnormalities, sexual dysfunction, seborrheic dermatitis)

  • Weakness, fatigue

  • Depression or anhedonia

2. Motor:

  • Tremor

  • Postural instability

  • Decreased arm swing on the first-involved side

3. Dementia

Onset of motor signs includes the following:

  • Typically, asymmetric resting tremor in an upper extremity

  • Progression of bradykinesia, rigidity, and gait difficulty

  • Axial posture becomes progressively flexed and strides become shorter

  • Dystonia

  • Seizures

PARKINSON ALZHEIMER's DEMENTIA

Overview:

The Alzheimer’s-Dementia Panel examines 16 genes associated with an increased risk of developing neurodegenerative conditions: Alzheimer’s disease and genetic disorders that cause dementia. This analysis also includes examination of C9orf72 repeat expansions by repeat-primed PCR (rpPCR), but does not include C9orf72 methylation studies.
 

Who is this test for?

Patients with a personal and/or family history of Alzheimer’s disease and dementia. Warning signs of these diseases include, but are not limited to abnormal imaging of the brain, difficultly moving or controlling one’s movement, 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.

 

Major clinical symptoms:

  • Memory failure and memory loss, subtle and poorly recognized, progressive

  • Language disturbance

  • Confusion and poor judgment

  • Progressive behavioral changes, agitation, withdrawal, and hallucinations

Less common clinical symptoms:

  • Seizures and myoclonus

  • Parkinsonian features

  • Increased muscle tone

  • Incontinence

  • General malnutrition, pneumonia

PARKINSON ALZHEIMER's DEMENTIA

Overview

The Comprehensive Cardiomyopathy Panel examines 129 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).
 

Who is this test for?

Patients with a personal and/or family history suggestive of a hereditary cardiomyopathy. Red flags 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.

  • Individuals with a family history of disease and presentation of the most common symptoms

  • Individuals without a positive family history, but with symptoms resembling this disease

  • Individuals with a negative but suspected family history, in order to perform proper genetic counseling (prenatal analyses are recommended in families with affected individuals)

What are the potential benefits for my patient?

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. Also, your 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 an increased risk of up to 50%. In some cases, screening should begin in childhood.

PARKINSON ALZHEIMER's DEMENTIA

Overview

The Diabetes-Obesity Panel examines 56 genes associated with obesity and/or diabetes.
 

Who is this test for?

Patients with a personal and/or family history suggestive of monogenic diabetes and obesity related disorders. These conditions may occur independently or as clinical features of a genetic syndrome.

Clinical Factors

One should also look at clinical factors that could suggest monogenic diabetes. Some of these include being diagnosed with diabetes within the first 6 months of life, when there is a family history of diabetes, when there are features of diabetes that don’t fall into the typical “type 1” or “type 2” category, and when a person has a stable, mild fasting hyperglycemia, even if they’re in a normal weight category. Similarly, genetic testing will be beneficial if someone in your family has diabetes, but are a normal weight or if you belong to certain ethnic groups that are more at risk for diabetes.2

What are the potential benefits for my patient?

Patients identified with a disease-causing change (a pathogenic or likely pathogenic variant) in a gene on this panel 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. Your patient’s family members can also be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, and parents) are up to 50% more likely to also be at increased risk.