WES Duo Genetic Testing | Lahalak Platform
Advanced genetic analysis reading protein-coding regions in the genomes of the patient and a parent, accelerating the discovery of genetic causes for rare diseases and complex undiagnosed syndromes.
Scientific name: Whole Exome Sequencing (WES), Duo
Next-Generation Sequencing (NGS) is an advanced genome sequencing technique that targets the sequence of all protein-coding regions (exomes) in the DNA of the patient (the affected child) and one of their parents (often both parents). The child's sequence is then compared to the parent's sequence to identify de novo, recessive, and dominant mutatio...
Service type
Advanced genetic analysis (NGS)
Duration
15-20 minutes
Fasting
Fasting is not required
Included Services
- Whole exome sequencing (NGS) analysis of the patient and one parent
- In-depth bioinformatics analysis and clinical interpretation of the results
- Personal support services from Lahalak
Medical Service Information
Conditions & Notices
- Genetic counseling before and after testing is mandatory to understand the expectations of the test, its limitations, and the implications of the possible results for the patient and family.
- A detailed medical history and family history must be provided with the examination, as the interpretation of mutations depends heavily on clinical manifestations.
- The final report may take several weeks to months to be issued due to the complexity of the bioinformatics analysis and clinical interpretation.
- Informed consent must be obtained, especially with regard to secondary or incidental findings (such as the discovery of susceptibility to another unexpected disease).
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