WES Trio Genetic Diagnosis | Lahalak Platform
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.
Scientific name: Whole Exome Sequencing (WES), Trio
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...
Included Services
- Whole exome sequencing (NGS) analysis of a triplet family (child + parents)
- Advanced bioinformatics analysis with family filtering and in-depth clinical interpretation
- Personal support services from Lahalak
Medical Service Information
Conditions & Notices
- Genetic counseling before and after testing is strictly mandatory, due to the depth of information that may be discovered about the child, parents, and extended family.
- It is necessary to collect blood or saliva samples from the child and both biological parents at approximately the same time to ensure equal technical quality.
- Providing a detailed medical history of the child and a three-generation family history.
- A comprehensive informed consent form covering triple screening, incidental results for each individual, and privacy policy.