ore Product Advantages

1. Highly Economical

   Targets only the 1%~2% exon regions of the human genome that encode functional proteins, covering most functional variations linked to individual phenotypes. It avoids redundant whole-genome detection, greatly reducing detection costs while meeting the core needs of genetic disease etiology identification.

2. Authoritative and Up-to-Date

   Equips with a regularly updated disease database that closely follows the latest clinical and scientific research progress, continuously optimizing variation interpretation standards and improving the detection rate of pathogenic genetic variations for more reliable test results.

3. Comprehensive and Customized

   Provides in-depth genetic variation analysis and interpretation guidelines, with a complete case management system and powerful NGS annotation and interpretation capabilities supported by an exclusive database system. It also offers customized test reports tailored to clinical diagnosis, treatment and research needs of different users.

Applicable Population

1. Suspected patients with monogenic genetic diseases
2. Patients with clinical critical illnesses and unclear prognosis who need a definitive diagnosis for precise treatment planning
3. Patients with complex diseases and syndromes of unknown etiology that cannot be diagnosed by routine methods
4. High-risk groups with a family history of genetic diseases
5. Couples with a genetic disease family history or a child with genetic diseases who require prenatal diagnosis or genetic counseling

Clinical Significance

1. Precise Etiological Diagnosis

   Accurately identifies the genetic causes of genetic diseases, differentiates disease types with similar clinical phenotypes, and solves the problem of unclear diagnosis in difficult and complicated genetic disease cases.

2. Guides Personalized Treatment and Prognosis

   Formulates targeted personalized treatment plans based on the identified genetic etiology; conducts cascade screening to find pathogenic variant carriers, and provides early prevention and intervention strategies to help them avoid disease-triggering factors.

3. Scientific Fertility Guidance

   Combined with genetic counseling, it designs personalized fertility plans for high-risk couples, effectively reducing the birth rate of children with genetic diseases and realizing scientific prevention of hereditary birth defects.

4. Assists Academic and Clinical Research

   Provides high-quality genetic variation data for scientific research, promoting in-depth studies on the pathogenesis of genetic diseases and the exploration of novel therapeutic targets and methods.

Standard Detection Process

1. Nucleic acid extraction from clinical samples
2. Exome-targeted gene library construction
3. Probe hybridization for target region capture
4. Magnetic bead capture to enrich exon sequences
5. High-throughput sequencing of captured target exome sequences
6. Professional bioinformatics analysis and genetic variation result interpretation
7. Compilation and release of a detailed customized test report

Lead Time