Early-Onset Alzheimer’s Disease

$600.00

About the Test

The Early Onset Familial Alzheimer Disease (EOFAD) Panel examines 3 genes associated with an increased risk of developing the neurodegenerative condition: Early Onset Familial Alzheimer Disease.

Overview

The Early Onset Familial Alzheimer Disease (EOFAD) Panel examines 3 genes associated with an increased risk of developing the neurodegenerative condition: Early Onset Familial Alzheimer Disease.

Genes

 3 Genes

APP, PSEN1, PSEN2

Disorders
  • Early Onset Familial Alzheimer’s Disease
Gene Function
Clinical Utility
When To Order

Patients with a personal and/or family history with multiple individuals affected by Alzheimer disease before age 65. Early Onset Familial Alzheimer Disease is characterized by adult-onset progressive dementia. Additional symptoms can look like the following: memory loss, judgement and motor dysfunction, personality and behavioral changes, and confusion. Not all patients and families will have this exact presentation or all of these features.

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 Early Onset Familial Alzheimer’s 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, parents) could have as high as a 50% risk 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, 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