Pathogenic Gene Analysis
CHGB · Partner-reported service scope
Partner-reported:1,000+ disease panels
NGS · sub-exome sequencing
Explore serviceComprehensive genetic disease diagnosis and birth defect prevention across the full care continuum, from premarital and preconception screening through newborn genomic screening.
Genetic diagnostic testing is regulated differently in every jurisdiction. Panels are provided as laboratory services; local validation and accreditation are supported, and the regulatory dossier remains with the local institution.
Partner-reported capabilities
- Premarital & preconception screening
- Including health education programmes.
- Carrier screening
- Severe pathogenic variants.
- Preimplantation genetic diagnosis (PGD)
- Prenatal diagnosis
- Non-invasive chromosomal and de novo mutation testing, plus invasive sub-exome sequencing.
- Newborn genomic screening (gNBS)
- Developmental assessment
- Early detection, intervention and treatment emphasis.
- Functional birth defect panels
- Epilepsy, autism, precocious puberty, developmental delay.
- Pre-symptomatic & polygenic risk
- Monogenic late-onset and common disease.
- Genetic counselling capability building





