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Genetic Testing for Neurocognitive Disorders

Posted by Sara Carpenter on Mar 12, 2022 4:56:32 PM
Sara Carpenter
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Henry is sitting in the patient waiting room, and he’s concerned.

His family has a history of neurocognitive diseases. His 85-year-old mother has been in memory care for dementia for the past decade. A few years ago, Henry’s father began having difficulty completing everyday tasks, became confused about time and place, and increasingly got lost on his daily walk. About that same time, his aunt began having tremors, shuffled her feet and had changes in her speech. 

Henry wonders if he, too, will one day be diagnosed with dementia, Alzheimer’s or Parkinson’s.

 

1 Test, 64 Genes

Knowledge is power, and power brings hope for the future, which begins with one laboratory test. 

With a simple test, Diax Labs’ proprietary Neurocognitive Evaluation Panel examines 64 genes associated with an increased risk for developing neurocognitive disorders. And while no single test exists to diagnose dementia, our panel identifies a pathogenic or likely pathogenic mutation in genes associated with hereditary forms of dementia, Alzheimer’s disease, and Parkinson’s disease. Neurocognitive testing also rules out other medical conditions that present as dementia-like memory loss symptoms.

 

Putting Time on Your Side

While there’s currently no cure for these neurocognitive diseases, early identification of vulnerable individuals like Henry puts time on their side – and yours – against the devastating realities of dementia, Alzheimer’s, Parkinson’s, Lewy-Body Dementia, Frontotemporal Dementia, amyotrophic lateral sclerosis (ALS), cerebellar ataxia and vascular dementia. 

  • An early diagnosis empowers the patient to prioritize their health, learn about their disease, take advantage of treatment options, be proactive in decision-making about the future, and share information with at-risk family members and potentially maintain a level of independence longer.

  • Early identification of the pathogenic gene also can help a patient avoid unnecessary struggles and expenses associated with missed opportunities for treatment, counseling or clinical trials. 

  • The physician can develop a proactive treatment plan to potentially lessen symptoms and slow the progression of the disorder with hope for a better patient outcome. 

 

Diseases, Statistics and Genetic Ties

Alzheimer’s Disease. In the United States alone, 6.2 million people are living with Alzheimer’s, the most common neurodegenerative dementia, and that number is projected to double every 20 years as the population continues to age.1,2 Worldwide, there are more than 10 million patients diagnosed with dementia every year, which equates to one new case every 3.2 seconds.3 Here’s what we know about Alzheimer’s and genetics.

  • Early-onset autosomal dominant Alzheimer’s disease, also known as early-onset familial Alzheimer’s disease (FAD), is caused by a hereditary genetic mutation in PSEN1, PSEN2 or APP.

  • Genes that increase patient risk of Alzheimer’s disease are APOE, TREM2 and NOTCH3. 

 

Lewy-Body Dementia. More than 1 million people in the United States are living with this disease, which is second to Alzheimer’s among the most common types of progressive dementia.4 Here’s what we know about its ties to genetics.

  • Familial cases can be caused by mutations in the SNCA, APOE E4 or GBA gene. 

 

Parkinson’s Disease. Nearly 1 million people in the United States are living with Parkinson’s. With 60,000 new diagnoses every year, that number is expected to reach 1.2 million by 2030.5 Here’s what we know about Parkinson’s and genetics.

  • The disease can run in families.

  • 15% of patients have a family history of Parkinson’s.

  • Familial cases can be caused by mutations in the LRRK2, PARK7, PINK1, PRKN, MAPT, GBA or SNCA gene.

 

Frontotemporal Dementia. Rough estimates point to 50,000 people in America with frontotemporal dementia. Here’s what we know about its ties to genetics.6

  • Up to 40% of diagnosed patients have at least one family member with a dementia diagnosis.

  • Three major causal genes are MAPT, GRN and C9ORF72. 

 

Amyotrophic Lateral Sclerosis. ALS is less common, with 30,000 people currently living with the condition, and about 5,000 patients are diagnosed with ALS every year.7 Here’s what we know about ALS and genetics.

  • 5-10% of patients inherited a genetic mutation from a family member. 

  • The most common gene mutations are C9orf72, FUS, TARDBP and SOD1.

Given these alarming statistics and projected spikes, identifying at-risk individuals and treating patients with neurocognitive disorders should be a public health priority, and physicians play an important role.

 

Let’s Talk

Are you an independent physician interested in genetics testing for patients at risk for neurocognitive diseases? Are you a laboratory marketing professional who sells to these independent physicians? We welcome the opportunity to talk with you about Diax Labs’ proprietary Neurocognitive Evaluation Panel for analyzing DNA to detect gene variations. 

Learn more or schedule a virtual presentation

Watch our YouTube video about Diax Labs’ Neurocognitive Panel 



1,2 Centers for Disease Control and Prevention, Alzheimer’s Disease International
3 Alzheimer’s Disease International
4 Lewy Body Dementia Association
5 Parkinson’s Foundation
6 Alzheimer’s Association
7 Johns Hopkins Medicine

Topics: Blog