The Parkinson-Alzheimer-Dementia Panel examines 35 genes associated with an increased risk of developing neurodegenerative conditions: Parkinson’s disease, Alzheimer’s disease, and genetic disorders that cause dementia. This analysis also includes an 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 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.

Additional information for your patient:

Alzheimer’s Disease, Parkinson’s Disease, and dementia are conditions that affect the brain and spinal cord. They can cause serious complications, such as difficulty moving or experiencing involuntary movements (i.e. tremors), memory loss, and disruption of mental abilities (solving problems, controlling emotions, or chewing and swallowing). Symptoms of these conditions typically begin after the age of 60, however, in some families’ symptoms can occur as early as the third decade of life. Research has shown that these diseases can sometimes be caused by abnormal changes in our genes, and these genetic changes can be inherited and passed down in families. Having a family history of Parkinson’s disease, Alzheimer’s disease, dementia, or a similar condition may increase your risk of having that condition. There is no cure for Alzheimer’s disease, Parkinson’s disease, or dementia; however, there are treatments available to provide temporary relief from symptoms. Surgery, such as deep brain stimulation, may also be considered. Genetic testing may identify individuals at increased risk and assist in the planning and decision-making process for treatment, psychosocial counseling, and support programs for caregivers and patients.

Test Limitations:

All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next-generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low-quality scores and to meet coverage standards.

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If ordered, Del/Dup analysis is designed to identify deletions or duplications which are two or more contiguous exons in size. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, most repeat expansions (eg. trinucleotides or hexanucleotides), alternations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). If performed, repeat expansion analysis may not elicit the precise number of repeats present in large expansions. This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

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