Science Behind It
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Inborn Metabolic Error
Inborn Errors of Metabolism (IEMs) are a group of rare genetic disorders that affect how the body processes food and converts it into energy. These disorders can lead to severe neurological, developmental, and systemic complications if not diagnosed and managed early.
- Over 700 known IEMs exist, affecting approximately 1 in 2,500 newborns worldwide.
- Symptoms can range from mild metabolic abnormalities to life-threatening crises.
- Early genetic diagnosis enables targeted dietary management, enzyme replacement therapy, and personalized interventions.
We offer a tiered approach to genetic testing, ensuring cost-effective solutions while maintaining high diagnostic accuracy.
Other Rare Disease
Rare diseases often have complex, overlapping symptoms, making diagnosis challenging. Many are caused by genetic mutations and require specialized testing for effective treatment. With over 7,000 rare diseases affecting 300 million people, early diagnosis can guide treatment, risk assessment, and family screening.
Our tiered approach offers cost-effective, accurate solutions:
- ExomePlus for initial testing, targeting ~20,000 genes and providing quick results in 21 days.
- WGS and OGM for complex cases, detecting deep mutations and structural variations missed by other tests.
