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次世代定序相關服務

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Geneyx Analysis empowers hospitals and genetic labs with a powerful analysis platform that supports a variety of clinical applications and services in diverse areas in medicine, including rare disorder analysis, disease risk assessment, and and a wide variety of ready to use genetic tests and reports. It offers VCF an-notation, analysis, interpretation and comprehensive reporting and enables labs to rapidly adopt genetic testing and define workflows (protocols) for standardization of tests. Geneyx Analysis leverages the Weitzman institute for science knowledgebase with its modules for rapid and accurate interpretation of genetic disorders for SNVs and short Indels, as well as CNVs (copy number variations) and SVs (structural variations) and provides comprehensive customizable reports.

Fearures
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 PHENOTYPE-DRIVEN ANALYSIS

INTEGRATED ANNOTATION AND INTERPRETATION VIEW

AUTOMATIC, CUSTOMIZABLE REPORT GENERATION

CLOUD OR ON PREMISES & INTEGRATIONS

Applications
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RARE DISORDERS

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TUMOR BIOPSIES

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HEALTH SCREENING

Novel clinical genetic findings using Geneyx & publication

  1. A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D. Int. J. Mol. Sci. 2021

  2. Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Defi-ciency and Early Onset Osteoporosis. Int. J. Mol. Sci. 2021

  3. Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with micro-cephaly, bilateral cataract, epilepsy and simplified gyration. J. Med. Gen. 2021

  4. Exome sequencing as the first‐tier test for pediatric respiratory diseases: a single‐center study. Hum Mutat. 2021

 

Success Stories

  1. Bambino gesù children's hospital: Increasing the accuracy and decreasing the time required for clinical genetic analysis

  2. Tel aviv sourasky medical center : Identifying novel mutations responsible for colon cancer predisposition