A Dx Success Story Showing the Clinical Utility of Genomic Testing as a First-Line Diagnostic Test

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Genetic disorders are prevalent in many developing countries, but access to genomic testing is limited. In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 Pakistani children over a one-year period. Of note, there were immediate steps that could be taken regarding clinical management in the majority of these young patients. A scientific study detailing the findings was published in NPJ Genomic Medicine.


  • Huma Arshad Cheema
  • et al.