Frequently Asked Questions

MoodNote Genomic Analysis offers DNA data analysis and interpretation services. It also offers pharmacogenetics service.

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

As an online service, mygeneportal.com is accessible at any time. Consultations may be scheduled in advance for a time that works for you.

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.

No, we are not. We can analyze DNA data obtained by any laboratory as long as these data are not corrupted and are presented to us in one of the standard formats, which are fastq, bam or vcf files.

At MyGenePortal we focus  on pathogenic variant discovery and 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 overwhelm healthcare providers with an abundance of insignificant data 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.

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.

Yes, we can. It is important to keep in mind that these platforms are designed to identify only a very small number of variants, which may be associated with an individual’s geographic ancestry.

We identify pathogenic variants that are likely to be disease causing according to criteria established by ACMG (American College of Medical Genetics and genomics).

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

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.

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 occur in a child for the first time (de novo).

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

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

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

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

In general, the MyGenePortal’s 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.