Economical---The exome accounts for only 1% ~ 2% of the human genome, and exons can encode amino acids for translation into functional proteins, covering most of the functional variations associated with individual phenotypes.

Authoritative---The disease-database is updated regularly to keep up with the progress of clinical frontiers and improve the detection rate.

Comprehensive---In-depth analysis and interpretation guide, with a comprehensive case management system, powerful NGS annotation, interpretation, exclusive database system, and customized reports.

Suspected patients with monogenic genetic diseases

Patients with clinical critical illness and difficult prognosis judgment who need a clear diagnosis and choose a precise treatment plan

Patients with complex diseases and syndromes with complex etiologies and difficult to be diagnosed by routine diagnosis

High risk population with family history of genetic disease

Couples who have a family history of genetic disease or have given birth to a child who needs prenatal diagnosis or genetic counseling

Precise diagnosis: find the genetic causes of genetic diseases and identify the disease types with similar phenotypes

Guiding treatment&prognosis: finding and designing personalized treatment plans based on the causes of the disease. Early prevention and intervention should be carried out for individuals carrying pathogenic variants identified through cascade screening, in order to stay away from the triggering factors of the disease.

Guiding fertility: designing a fertility plan to reduce the birth rate of children

Assisted scientific research: promoting the study of the pathogenesis and treatment exploration of related diseases

Nucleic acid extraction

Library construction

Probe hybridization

Magnetic bead capture

Target sequence capture

High-throughput sequencing

Result interpretation & Report

15 working days after receiving qualified samples.