Clinical Whole Genome & Exome Profiling
Diagnose rare and hereditary diseases with high-precision sequencing analysis. By targeting protein-coding regions and the entire genome, we uncover pathogenic variants to solve complex clinical cases.
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Overview
Deep Exome Sequencing: Analyzing over 20,000 genes to identify variants in protein-coding regions.
Whole Genome Insights: Examining non-coding regions and regulatory elements for a truly comprehensive view.
Trio Analysis: Sequencing the patient and both parents to rapidly filter out benign inherited variants.
ACMG-Compliant Reporting: Interpreting variants according to the most rigorous international clinical guidelines.
Diagnostic Odyssey Solution: Providing answers for rare pediatric and neurological disorders where other tests have failed.
Key Features
> Deep Exome Sequencing: Analyzing over 20,000 genes to identify variants in protein-coding regions.
> Whole Genome Insights: Examining non-coding regions and regulatory elements for a truly comprehensive view.
> Trio Analysis: Sequencing the patient and both parents to rapidly filter out benign inherited variants.
> ACMG-Compliant Reporting: Interpreting variants according to the most rigorous international clinical guidelines.
> Diagnostic Odyssey Solution: Providing answers for rare pediatric and neurological disorders where other tests have failed.
Application & Demo
We successfully concluded a project involving a group of pediatric patients with undiagnosed neurodevelopmental delays. By utilizing Whole Exome Sequencing (WES), we identified de novo pathogenic mutations in 35% of the cases, providing families with a definitive diagnosis for the first time. This enabled the clinical team to transition from diagnostic testing to specific therapeutic management and provided vital information for the parents' future reproductive risks.
Frequently Asked Questions
What is the main advantage of WGS over WES?
WGS covers the entire genome, including non-coding regions that may contain regulatory mutations, whereas WES focuses only on protein-coding genes.
Is genetic counseling included?
We provide comprehensive reports that are designed to be reviewed by a certified genetic counselor or clinical geneticist.
What type of samples are required?
Typically, a simple peripheral blood sample or a saliva kit is sufficient for high-quality DNA extraction.
Can these tests predict future health risks?
Yes, they can identify predispositions to conditions like hereditary cancers or cardiovascular diseases.