Berries Health Neurological Disorder, Parkinson’s Disease, Ataxia, and Dementia (Neuro) Panel

The Berries Health Neuro Panel analyzes genetic variations linked to various neurological disorders, including Alzheimer’s disease, frontotemporal dementia (FTD), Ataxia, Charcot-Marie-Tooth disease (CMT), spastic paraplegia, Parkinson’s disease, amyotrophic lateral sclerosis (ALS), and epilepsy. 

Purpose of the Neuro Genetic Test 

The Neuro genetic testing panel is suitable for individuals with a personal or family history of neurological disorders, particularly if these conditions affect multiple family members, require hospitalization, or result in long-term disabilities. This panel assists in confirming diagnoses and guiding treatment options. Patients with neurological disorders can benefit from supplementary therapies and preventative strategies. Genetic testing can also aid in developing effective management plans and helps physicians confirm or establish the correct diagnosis. 

By confirming a diagnosis, the Neuro genetic testing panel can identify risks for related symptoms, prevent exposure to harmful environmental factors, and support lifestyle modifications. 

Clinical Utility

The results from the Neuro genetic testing panel lead to personalized treatments and symptom management, inform family members about their risk factors, connect patients to relevant support resources, and provide options for family planning. 

Methodology

The test identifies inherited genetic variations (germline mutations) associated with neurological conditions. Genes serve as instructions encoded in DNA for building proteins. Variants of the same gene can exist, each having a slightly different DNA sequence. Some of these variants may influence health, including those linked to dementia and neuropathies. 

The Neuro genetic test panel examines a specified group of genes for genetic changes when compared to human reference variants associated with neurological conditions. The Berries Health Neurological Disorder Panel is a Laboratory Developed Test (LDT) validated by Berries Health Lab partner, utilizing Twist Exome 2.0 and Illumina NovaSeq6000 NGS Platform. This clinical LDT test has not been cleared or approved by the FDA. 

Outcomes of Genetic Test Results

1. Positive Result: A positive result indicates the identification of a pathogenic variant connected to a neurological disorder. Some neurological disorders are dominant, meaning one copy of a defective gene can cause the disease, while others are recessive, requiring two defective copies. A heterozygous pathogenic variation means the individual may be a carrier without showing symptoms. This information assists both the patient and healthcare provider in understanding and managing treatment plans.
2. Variation of Uncertain Significance (VUS): If genetic testing reveals a change not previously linked to neurological disorders, it may result in a VUS. This interpretation indicates uncertainty and typically does not contribute to healthcare decisions. Research may lead to the reclassification of these variants; some may later be deemed benign or associated with disease phenotypes. It is important for individuals to keep in contact with their healthcare provider for updates about their variants.
3. Negative Result: A negative test result indicates the laboratory did not identify any specific disease-linked variants among the tested genes. Thus, the individual does not have a genetic variation associated with neurological disorders within the genes analyzed by the Neuro genetic testing panel.

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Neurological Disorder, Parkinson’s Disease, Ataxia, and Dementia (Neuro) Panel