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Families facing rare, genetic, and neurodevelopmental disorders often spend years searching for answers through multiple consultations, laboratory tests, imaging studies, and specialist evaluations.
Whole Genome Sequencing offers a more comprehensive approach by analyzing nearly all of a person's DNA in a single test, helping identify genetic causes that may remain undetected through traditional diagnostic methods.
When years of appointments, investigations, and inconclusive results fail to provide answers, Whole Genome Sequencing can help uncover the genetic causes that other tests may miss.
Visual: Organizations supporting the use of comprehensive genomic testing as a first-line genetic test (conditions & references listed below)
Current clinical guidelines and recommendations from major genetics, neurology, pediatrics, and developmental medicine organizations support the use of Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES) as a first-line or early-tier diagnostic test for many patients with:
Developmental delay
Intellectual disability
Autism Spectrum Disorder
Epilepsy
Hypotonia
Congenital anomalies
Suspected rare genetic disorders
A confirmed molecular diagnosis can directly influence medical management, specialist referrals, surveillance strategies, treatment decisions, and access to clinical trials. Globally, up to 38% of diagnosed patients receive WGS findings that lead to actionable changes in care.
Manickam et al. Genet Med. 2021
Specific genetic variants related to Autism Spectrum Disorder were detected in up to half of families tested with whole genome sequencing.
Selvanayagam et al. J Med Genet. 2025
OMI® Whole Genome Sequencing evaluates approximately 3 billion DNA base pairs across the entire human genome.
Single nucleotide variants (SNVs)
Small insertions and deletions
Copy number variants (CNVs)
Structural variants
Selected mitochondrial findings
Other clinically relevant genomic alterations
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Autism, developmental delay or intellectual disability are present
The clinical presentation does not clearly fit a known syndrome
Multiple symptoms affect different organ systems
Previous genetic testing has been negative or inconclusive
There is a suspected rare genetic disorder
Epilepsy or congenital anomalies are present
A comprehensive first-line genetic investigation is preferred
Unlike many genetic tests that evaluate only a specific set of genes, Whole Genome Sequencing generates a comprehensive genomic dataset that can be revisited as scientific knowledge advances.
As new disease-associated genes are discovered and interpretation methods improve, previously unexplained findings may become clinically meaningful, providing opportunities for future reanalysis without the need to repeat sequencing
Whole Genome Sequencing (WGS) provides the most comprehensive genetic assessment currently available, analyzing nearly all of a person's DNA in a single test.
Test Type
What is Analyzed
Key Limitations
Single Gene Testing
One specific gene
Requires a strong suspicion of a particular condition
Gene Panels
Groups of genes associated with a specific disorder
Limited to selected genes included in the panel
Chromosomal Microarray (CMA)
Large chromosomal gains and losses
Cannot detect many disease-causing sequence variants
Whole Exome Sequencing (WES)
Protein-coding regions (~1–2% of the genome)
Does not evaluate most non-coding regions of DNA
Whole Genome Sequencing (WGS)
Nearly the entire genome, including coding and non-coding regions
Most comprehensive genomic analysis available
This test requires 2.5mL peripheral venous blood (EDTA) per peson included in the analysis.
Results should be expected 6–8 weeks from the date the sample reaches our lab partners.
International shipping for this test is available. Please consult our team for information regarding your specific country.
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OMI Biomedics. OMI RareDx. https://omibiomedics.com/omi-raredx/
Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for epilepsy: A clinical practice resource of the National Society of Genetic Counselors. Epilepsia. 2022;63(2):375–387.
Manickam K, McClain MR, Demmer LA, et al.; ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: An evidence-based clinical guideline of the ACMG. Genet Med. 2021;23(11):2029–2037.
Morton SU, Christodoulou J, Costain G, et al.; International Precision Child Health Partnership (IPCHiP). Evidence-based recommendations for rapid genomic testing in pediatric critical care. Nat Med. 2023.
Rodan LH, Stoler JM, Chen E, et al. Genetic evaluation of developmental delays and intellectual disability: Guidance from the American Academy of Pediatrics. Pediatrics. 2021.
NHS England. Accelerating Genomic Medicine in the NHS. https://www.england.nhs.uk/long-read/accelerating-genomic-medicine-in-the-nhs/
Royal College of Psychiatrists. The Role of Genetic Testing in Mental Health Settings (CR237). London: RCPsych; 2023. https://www.rcpsych.ac.uk/improving-care/campaigning-for-better-mental-health-policy/college-reports/2023-college-reports/the-role-of-genetic-testing-in-mental-health-settings-(cr237)
Results from OMI ® PGx Whole Genome Sequencing should be interpreted by a licensed medical geneticist or a healthcare professional with equivalent competence. They do not constitute a definitive diagnosis nor independent medical advice on their own. The analysis should be contextualized within the patient's broader clinical context, and final treatment decisions are up to the patient and their treating physician. Always consult your physician regarding your medication or treatment plans.
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