Higher Diagnostic Yield – Detects subtle genomic changes missed by karyotyping
- CMA offers significantly greater resolution compared to traditional karyotyping, enabling detection of submicroscopic deletions and duplications—also known as copy number variations (CNVs)—that are often responsible for developmental delays, congenital anomalies, and pregnancy losses. This enhanced sensitivity leads to a diagnostic yield of up to 15–20% in unexplained neurodevelopmental and prenatal abnormality cases, far exceeding the 3–5% yield of conventional cytogenetics.
Early Intervention – Enables timely clinical decisions in prenatal and pediatric cases
- By identifying clinically relevant genomic imbalances early in the diagnostic process, CMA allows clinicians to initiate timely interventions—whether through multidisciplinary care planning, targeted investigations, or early therapeutic support. In prenatal settings, this enables more informed pregnancy management, and in pediatric cases, it accelerates access to specialized services and developmental therapies.
Guides Genetic Counseling – Supports family planning and risk evaluation
- CMA results provide essential information for genetic counseling, helping families understand the cause of a condition, recurrence risks, and reproductive options. The test also helps clarify whether a genetic change is inherited or de novo, informing family member testing and long-term planning.
Supports Personalized Care – Facilitates targeted treatments and management plans
- By offering precise genomic insights, CMA helps tailor clinical management based on the specific genetic etiology. Whether guiding referrals, informing medication choices, or influencing developmental assessments, this test plays a central role in implementing precision medicine across various specialties including neurology, pediatrics, obstetrics, and reproductive health.
Clinically Validated Technology – Recommended by international guidelines (ACMG, ACOG)
Higher Diagnostic Yield
- CMA is endorsed by major professional bodies such as the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG) as the first-tier test for evaluating developmental delay, intellectual disability, autism spectrum disorder, and congenital anomalies. Its proven clinical utility makes it a standard of care in both postnatal and prenatal genetic diagnostics.
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