Late-Onset Alzheimer’s Disease

$600.00

About the Test

The most common type of Alzheimer’s disease usually begins after age 65 (late-onset Alzheimer’s disease).  The Late-Onset Alzheimer Disease Panel examines 35 genes associated with an increased risk of developing neurodegenerative conditions including Parkinson’s disease, 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.As research on the genetics of Alzheimer’s progresses, researchers are uncovering links between late-onset Alzheimer’s and a number of other genes.

Overview

The most common type of Alzheimer’s disease usually begins after age 65 (late-onset Alzheimer’s disease).  The Late-Onset Alzheimer Disease Panel examines 35 genes associated with an increased risk of developing neurodegenerative conditions including Parkinson’s disease, 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.As research on the genetics of Alzheimer’s progresses, researchers are uncovering links between late-onset Alzheimer’s and a number of other genes. 

Genes

35 Genes

APOE, APP, ATP13A2, ATP1A3, C9orf72, CSF1R, DCTN1, DNMT1, EIF4G1, FBXO7, GBA, GCH1, GRN, HTRA2, LRRK2, MAPT, NOTCH3, PARK7, PINK1, PLA2G6, POLG, PRKN, PRKRA, PRNP, PSEN1, PSEN2, SLC6A3, SNCA, SNCB, TAF1, TH, TREM2, TYROBP, UCHL1, VPS35

Disorders
  • Alzheimer’s Disease
  • Dementia
  • Parkinson Disease
Gene Function
Clinical Utility

The most common type of Alzheimer’s disease usually begins after age 65 (late-onset Alzheimer’s disease). As research on the genetics of Alzheimer’s progresses, researchers are uncovering links between late-onset Alzheimer’s and a number of other genes. 

When To Order

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.

Benefit To 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.

Patient Advocacy

Alzheimer’s Disease, Parkinson 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.

To learn more about these conditions, please visit:

  • Parkinson’s Foundation
  • NIH-National Institute of Neurological Disorders and Stroke
  • American Parkinson Disease Association
  • Alzheimer’s Association
Lab Method & Assay
  • Next Generation Sequencing
  • Deletion/Duplication Analyses
  • Sanger Sequencing
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. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. 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, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Test Code
Specimen Requirements

Buccal swab

Turn Around Time

3 – 5 weeks

CPT Codes

81405, 81406, 81408, 81479×1

NOTE: The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

References