Frequently Asked Questions

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MoodNote Genomic Analysis offers DNA sequencing, clinical data analysis and interpretation services. It also offers pharmacogenetics service.  We identify pathogenic variants that are likely to be disease causing according to criteria established by ACMG (American College of Medical Genetics and genomics). 

Our algorithm is highly accurate and has been validated. To validate the algorithm, we compared the presence of disease-related genes in about 200 cases of one disease and over 100 cases of another disease. The testing revealed an algorithm sensitivity of 89.6%, specificity of 88.3%, and accuracy of 89.1%.

What does this mean? Sensitivity refers to how well the algorithm identifies disease-related genes in patients who actually have the disease, while specificity measures how well it avoids falsely identifying these genes in people who don't have the disease. Accuracy reflects the overall reliability of the algorithm in making correct predictions. These high percentages mean the algorithm performs exceptionally well in distinguishing between diseases, ensuring precise and reliable results.

Our data sources are publicly accessible and highly reputable databases such as ClinVar, National Library of Medicine database of pathogenic and drug response variants, PharmGKB, Stanford University curated database of pharmacogenetic variants and many others. More information on specific databases and the pipeline of the variant discovery can be found in the Science section of this website..

No we do not. Our focus is on pathogenic variant discovery to inform medical decisions as well as pharmacogenetics.

As an online service, MoodNote is accessible at any time.

Some services e.g. pharmacogenetic data analysis and interpretation may be covered by insurance plans. In order to protect our customer privacy we do not share their genetic data with insurance companies. Please follow this link for information on how genetic testing could affect your insurance.

WES covers only protein coding genes, which is about 1% of the entire genome. WGS covers the entire genome and provides a greater accuracy and higher diagnostic yield. However, approximately 85% of all diseases are believed to be associated with pathogenic variants found in protein coding genes, which can be successfully identified by WES at a much lower cost.

We use accredited laboratories but do not have an affiliation with any laboratory. We can analyze DNA data obtained by any laboratory as long as these data are of good quality and are presented to us in one of the standard formats, which are fastq, bam or vcf files.

At MoodNote we focus  on pathogenic variant discovery and clinical interpretation of the findings. We provide users with a physician or other healthcare provider-ready report. Most other DNA data analysis services or "direct-to-consumer" testing services do not distinguish between pathogenic and common variants. This may result in healthcare providers being overwhelmed with the abundance of data of no significance or false-positive findings.

Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons – humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.

The goal of this approach is to identify genetic variants that alter protein structure and function, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for about 85% of all (both Mendelian and common polygenic) diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic tool.

Yes, we can analyze these data and provide pharmacogenetic report as well as Alzheimer's disease genetic risk determination. 

The American Association on Intellectual and Developmental Disability defines ID by using measures of 3 domains: intelligence (IQ), adaptive behavior, and systems of supports afforded the individual. More recently, the term ID has been suggested to replace “mental retardation.”

Most common comorbidities are seizures, intellectual disability, psychiatric symptoms such as anxiety or depression, sleep disturbances and gastrointestinal symptoms.

Autism represents a diverse group of medical conditions that share similar behavioral symptoms. These symptoms include reduced social interaction, reduced communication and increased repetitive behaviors. Autism is not a medical diagnosis. It could be compared to a container that holds many diseases in it. It is not uncommon for different diseases to have similar symptoms. For example, a fever could be caused by a viral infection but it could also caused by a bacterial infection. Treatment of a viral infection with antibiotics would be ineffective. On the other hand, not treating a bacterial infection with antibiotics would be detrimental. Autism treatment success depends a great deal on finding the specific medical cause and treating it.

Autism symptoms arise from DNA variants in genes responsible for nervous system development and function. These variants may be  inherited or appear anew.

Diagnosing ASD in adults is more difficult than diagnosing ASD in children. This is because in adults, some ASD symptoms can overlap with symptoms of other mental-health disorders, such as anxiety, depression, OCD or bipolar disorder.

Adults who experience 

• Difficulties with social interactions and communication
• Sensory processing difficulties
• Repetitive behaviors
• Restricted interests

can be referred to a neuropsychiatrist, psychologist, or a general psychiatrist who has experience with ASD.

Information about the adult’s developmental history will help in making an accurate diagnosis.

Most clinical cases of autism are associated with pathogenic mutations in several hundred genes. About 20% of these mutations are not inherited from parents but occurr in a child for the first time (de novo).

In general, the Moodnote Clinical Genomics services should be eligible as medical care covered by your FSA/HSA benefit. Please inquire with your tax advisor or the department of your organization responsible for your benefits.

Prices depends on the complexity of the order and start at $39 for PGx based on the availability of customer data (such as 23andMe).