Some serious conditions affecting newborns may not show any symptoms at birth, yet can pose life-threatening risks or significantly reduce quality of life over time. These disorders often affect multiple organs and may remain undiagnosed without advanced screening.
Many of these diseases are difficult to detect through conventional methods and can only be diagnosed through genetic analysis. Once identified, medical treatment is possible for a significant number of these conditions, leading to improved outcomes. Without a diagnosis, such diseases may result in the newborn and their family spending a large portion of their lives in hospitals.
Test to Be Performed
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Whole Exome Sequencing (WES)
Who Can Take the Test?
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Families with newborn babies
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Parents of children under 2 years of age
Number of Genes Analyzed
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5,079
Assessments Based on Gene Analysis
The panel includes evaluations for genetic risks related to:
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Bleeding disorders
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Blood diseases
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Bone fragility
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Developmental delays
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Cardiac disorders
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Liver and spleen enlargement
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Hypotonia (low muscle tone)
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Skin diseases
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Metabolic disorders
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Immune system diseases
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Skeletal diseases
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Epilepsy risk
