Overview

The human genome consists of DNA sequences organized into coding regions, known as exons, and non-coding segments, called introns. Exons collectively make up the exome, which encodes proteins essential for biological functions. Clinical exome sequencing (CES) involves analyzing these coding regions to identify pathogenic variants, especially in cases where the condition is complex or present in an unusual way. This approach holds significant medical value, as it enables the detection of disease-causing mutations across a wide spectrum of genetic disorders. The test focuses on genes scientifically linked to diseases, carefully curated from trusted databases including OMIM, HGMD, and ClinVar.

By identifying disease-causing variants, it enables clinicians to determine the most suitable treatment strategies at the earliest stage, helping to manage symptoms effectively and improve overall quality of life. It is particularly indicated for:

• Multifactorial disorders arising from variations in multiple genes.
• Pathologies lacking distinctive diagnostic markers.
• Mutations with limited functional or clinical data.
• Clinical scenarios with complex or unclear differential diagnosis.

G2M’s Clinical Exome Sequencing (CES) panel is a focused, high-performance complete solution - from DNA to variant report generation tailored for the efficient identification of clinically relevant variants. While conventional CES panels often struggle to balance comprehensive gene content with sequencing performance, the G2M CES panel is meticulously designed to overcome these limitations. The Panel delivers high-quality results that meet the rigorous standards of clinical diagnostic testing, ensuring accuracy you can trust in patient care. With the Clinical Exome Solution by G2M, healthcare providers can more accurately diagnose patients at risk of Mendelian and other genetic disorders, enabling truly personalized and effective treatment plans.