Hereditary Disease Diagnosis, ZEUS™

The diagnosis and treatment of human hereditary diseases has always been a difficult medical problem.

  • One hereditary disease may correspond to a variety of phenotypes. Take epilepsy as an example, more than 500 phenotypes have been recorded. Clinical symptoms of subtypes are usually similar and difficult to distinguish.
  • Many hereditary diseases are chronic, and may not present distinct familial genetic signatures or symptoms for a long period of time. Moreover, multiple systems are normally involved which easily leads to misdiagnosis.
  • Some hereditary diseases present only a proportion of symptoms at onset but varying with disease develops. This makes the diagnose of them are difficult with only symptoms at onset but without referring to the genetic tests.
  • Hereditary diseases diagnosis has long been relied on experience of physicians, and targeted sequencing of a small number of relevant pathogenic genes. This has easily lead to misdiagnosis or missed diagnosis.
Total number of hereditary disease >7000
Number of known gene mutations of genetic disease >200000
Number of newly identified hereditary diseases each year 250
Number of newly identified gene mutations associated with existing diseases each year 920
Time to analyze personal genomic data 40-60 hours
Proportion of diagnosed suspected rare genetic disease in the first genetic sequencing <25%
Whole exome sequencing and analysis of genetic disease is extremely important for patients
but challenging. Aegicare uses the most advanced artificial intelligence technology to provide the best solution.

Whole exome sequencing has become the mainstream in the diagnosis of hereditary diseases thanks to the progressive maturity of NGS technology. With covering all 180,000 exons, more than 22,000 genes and more than 60 million loci, it has been proven to be a simple, cost-effective and efficient solution in the clinic to improve the diagnosis of genetic diseases. Relying on Aegicare's AEGIS™, a high-precision, fully automated genetic data analysis and intelligent interpretation system, we provide patients with the most accurate, fastest, most economical and credible testing service.

Test Content Normal somatic cell whole exome sequencing
Suitable for Newborns, patients with suspected genetic disease, healthy people with a family history of related diseases, parents of patients with complex genetic diseases (trio test)
Sample Requirements 2ml saliva
Analysis of Genomic Data Sequence alignment + Mutation recognition + Free pedigree validation + Clinical annotation + Evidence-based treatment protocol + Smart test report
Product Advantages

Safe & Noninvasive —— Saliva as a test sample

Full Coverage —— Boosted Whole Exome covers all disease-related genetic information and enhances coverage of genetic disease hotspots

Advanced Technology –—— Advanced copy number variation and structural variation detection methods

Quick Reporting —— The whole process is highly automated, report is delivered in three weeks

Clinical Consultation —— Aegicare’s database closely follow the forefront of clinical research results. We are constantly updating reports for the most appropriate treatment and medical guidance