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Lahalak Medical PlatformDifferentiate Care
Whole Exome Sequencing (WES), Trio
Advanced genetic analysis for children and parents to detect rare hereditary diseases with high accuracy, providing precise genetic counseling for the family's healthy future.
Advanced first-order genome sequencing (NGS) is applied to the nuclear family consisting of the patient (affected child) and their parents. Whole exomes of all three are sequenced and compared simultaneously. This approach allows for the precise and immediate identification of de novo mutations, recessive mutations (inheritance of a defective copy from each parent), and dominant mutations (inheritance of a defective copy from one parent). It significantly reduces the time and effort required to filter and interpret thousands of genetic variants.
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