Frequently Asked Questions | Genomic Medicine

MoodNote offers DNA sequencing, pharmacogenetic testing, and expert analysis of genetic data. DNA sequencing is performed in a CLIA-certified laboratory, while all data interpretation and reporting are conducted in-house. MoodNote does not offer any medical services.

No, we do not offer paternity or ancestry testing. MoodNote focuses exclusively on the discovery of pathogenic genetic variants to support medical decision-making, along with pharmacogenetic analysis.

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 affiliated with any specific genetic testing laboratory. We analyze DNA data generated by any lab, provided the data are intact and submitted in a standard format such as FASTQ, BAM, or VCF.

At MyGenePortal, we focus on identifying clinically significant, pathogenic variants and provide users with reports designed for review by physicians or other healthcare providers. In contrast, most direct-to-consumer or general DNA interpretation services do not differentiate between common benign variants and those that are medically relevant, often overwhelming healthcare providers with excessive or misleading data.

Whole exome sequencing (WES) is a genomic technique used to sequence all the protein-coding regions of the genome, collectively known as the exome. Although the exome represents only about 1% of the human genome (approximately 30 million base pairs across ~180,000 exons), it contains the vast majority of known disease-causing variants.

WES involves two main steps: (1) selecting the DNA regions that encode proteins (exons), and (2) sequencing this subset using high-throughput DNA sequencing technologies.

Because about 85% of known disease-causing mutations occur in the exome, WES is a cost-effective alternative to whole genome sequencing for identifying variants that may affect protein structure and function. It is widely used in both clinical diagnostics and research, especially in the context of Mendelian and complex diseases such as Alzheimer’s disease.

Whole exome sequencing (WES) analyzes only the protein-coding regions of the genome, which make up about 1% of the entire genome. Whole genome sequencing (WGS), by contrast, sequences the entire genome, including both coding and non-coding regions.

WGS offers broader coverage and may provide greater accuracy and higher diagnostic yield, particularly for structural variants or mutations in regulatory regions. However, since approximately 85% of known disease-causing variants are found in protein-coding regions, WES remains a highly effective and significantly more cost-efficient option for identifying clinically relevant mutations.

Yes, we can analyze data from 23andMe and similar platforms for pharmacogenetic purposes. However, it’s important to note that these consumer DNA tests typically assess only a limited number of genetic variants—primarily those related to ancestry.

In contrast, our approach focuses on identifying clinically significant, potentially disease-causing variants, based on guidelines established by the American College of Medical Genetics and Genomics (ACMG).

Intellectual disability (ID) is a neurodevelopmental condition characterized by significant limitations in both intellectual functioning (typically measured by IQ) and adaptive behavior, which includes everyday social and practical skills. The American Association on Intellectual and Developmental Disabilities (AAIDD) defines ID across three domains: intellectual functioning, adaptive behavior, and the level of support an individual requires in daily life.

The term “intellectual disability” has replaced the outdated term “mental retardation” in both clinical and educational settings, reflecting a more respectful and person-centered approach.

Autism, or autism spectrum disorder (ASD), is a behaviorally defined condition characterized by challenges in social interaction, communication, and repetitive behaviors. However, autism is not a single disease—it is a broad clinical description that can result from many different underlying medical or genetic conditions.

Just as a symptom like fever can be caused by either a viral or bacterial infection, similar behavioral features seen in autism may arise from distinct biological causes. Treating all cases of autism the same way—without identifying the underlying cause—may lead to ineffective or even harmful interventions.

For this reason, understanding the specific medical or genetic basis of each individual’s condition is essential for targeted and effective treatment.

Yes, autism often has a genetic basis. Most clinical cases are associated with pathogenic mutations in one or more of several hundred genes linked to brain development and function. Approximately 20% of these mutations are de novo, meaning they occur spontaneously in the child and are not inherited from either parent.

Common comorbidities associated with autism include seizures, intellectual disability, psychiatric conditions such as anxiety and depression, sleep disturbances, and gastrointestinal issues. These comorbidities can significantly affect quality of life and may require targeted evaluation and treatment alongside core autism symptoms.

Diagnosing autism spectrum disorder (ASD) in adults can be more challenging than in children, as symptoms may overlap with other mental health conditions such as anxiety, depression, obsessive-compulsive disorder (OCD), or bipolar disorder.

Adults who experience difficulties with social interaction and communication, sensory processing issues, repetitive behaviors, or restricted interests may benefit from an evaluation by a neuropsychiatrist, psychologist, or psychiatrist experienced in adult ASD.

A thorough developmental history is essential for making an accurate diagnosis, as many traits may have been present since childhood but masked or misattributed over time.

In general, MyGenePortal’s services may qualify as eligible medical expenses under most FSA or HSA plans. However, coverage can vary by provider, so we recommend confirming eligibility with your plan administrator or tax advisor.

Sequencing typically takes 4 to 6 weeks. Once the data are available, interpretation and analysis are completed within one business day.

The accuracy of DNA sequencing depends on the depth of coverage, which refers to how many times each base is read. Our sequencing is performed at a depth of 100× or greater, which ensures high sensitivity and specificity in variant detection—typically above 99% for single nucleotide variants (SNVs) in well-covered regions.

Our data interpretation platform has been clinically validated using multiple independent patient cohorts and is optimized for identifying pathogenic variants with high clinical relevance. The overall accuracy of our variant classification and prioritization approaches 90%, making it a highly reliable tool for supporting medical decision-making.