Don't Let Genetic Uncertainty Define Your Future
Early detection and understanding of rare genetic conditions can make all the difference
Alzheimer's Disease
Worried about memory loss in your family? Alzheimer's disease isn't just a part of aging; it's influenced by genetics, lifestyle, and brain health. Some people inherit a higher risk due to specific gene variants, while factors like diet, exercise, and cognitive activity also play a major role. DNA testing can help identify genetic markers linked to Alzheimer's, allowing for early lifestyle adjustments, brain-boosting habits, and proactive healthcare. While there's no cure, knowing your risk empowers you to take action early and protect your brain health for the future.
Muscular Dystrophy
Muscular dystrophy is a genetic disorder that causes progressive muscle weakness and loss of function. It occurs when gene mutations interfere with muscle repair and growth, leading to mobility challenges over time. DNA testing can help detect inherited risks early, allowing for better management, targeted therapies, and proactive care. While there's no cure, early awareness empowers individuals to explore treatment options, physical therapy, and lifestyle adjustments to maintain mobility and quality of life.
Neurofibromatosis Type 1
Neurofibromatosis Type 1 (NF1) is a genetic disorder that causes tumors to grow on nerves throughout the body. It can lead to skin changes, bone abnormalities, vision problems, and learning difficulties. Some cases are inherited, while others result from new genetic mutations. DNA testing can confirm NF1 early, allowing for better monitoring, medical management, and proactive treatment. While there's no cure, early diagnosis helps individuals and families prepare for potential health challenges and explore the best care options for long-term well-being.
Retinitis Pigmentosa
A slow loss of vision could be more than just aging, it might be Retinitis Pigmentosa (RP). This genetic eye disorder damages the retina, leading to night blindness, tunnel vision, and, in severe cases, complete blindness. RP is inherited, but symptoms and progression vary from person to person. DNA testing can identify genetic mutations linked to RP, helping individuals understand their risk and explore early interventions, low-vision aids, and potential future treatments. While there is no cure, early awareness allows for better planning and management to maintain independence and quality of life.
Leigh Syndrome
Leigh Syndrome is a rare genetic disorder that hits the brain and muscles hard, usually showing up in early childhood. It's caused by DNA mutations that mess with energy production, leading to muscle weakness, trouble moving, breathing issues, and developmental delays. DNA testing can spot these mutations early, giving families a chance to plan treatments, manage symptoms, and explore supportive care. There's no cure yet, but catching it early means better care, better choices, and a better quality of life.
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Sample Disease Risk Report Presentation
Preview our updated standard Polygenic Score Report structure featuring standardized headers, bell curve risk gradient visualization, DNA variant diagrams, 3-step calculation science, and references.
Coronary Artery Disease (CAD)
Genome-wide polygenic score integrating 143 validated single nucleotide polymorphisms (SNPs) across chromosomes 1, 6, 9, 11, and 19 associated with coronary plaque accumulation and lipid transport.
Your Genetic Result
Polygenic Risk Score (PRS) Assessment
What this means for you
Your polygenic risk score falls in the 95th percentile of the reference population (Elevated). This indicates approximately 2.6 times the baseline relative risk of developing Coronary Artery Disease (CAD) compared to the average population.
Curated Key Variants
Gene: LPA(Lipoprotein(a))
Carries one copy of LPA high-risk variant associated with elevated plasma Lp(a).
Gene: CDKAL1(CDK5 Regulatory Subunit Associated Protein 1 Like 1)
Homozygous for the risk-increasing C allele associated with elevated plaque accumulation risk.
Gene: CDKN2A/B(Cyclin Dependent Kinase Inhibitor 2A/B)
Carries two copies of the 9p21.3 risk locus variant.
Gene: KCNQ1(Potassium Voltage-Gated Channel Subfamily Q Member 1)
Heterozygous for risk variant on chromosome 11.
What is Coronary Artery Disease?
Coronary artery disease (CAD) refers to the gradual buildup of plaque in the blood vessels that supply oxygen-rich blood to the heart muscle. Plaques build up over time starting as early as your 20s and ultimately increase the risk of a myocardial infarction ("heart attack"). CAD remains a leading cause of death globally.
Lifestyle & Prevention
While a polygenic risk score relies on genetic variation alone, DNA is not destiny — both a healthy lifestyle and medical interventions (such as statins) can reduce your risk of CAD by as much as one-half.
Frequently Asked Questions
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