DIAGNOSTIC SERVICES


To identify the causative genetic variation(s) for a specific disease

To track if your family members carry the same pathogenic mutations and risk

TAT:
WGS: 3 months
WES: 2 months

Hereditary Testing & Diagnosis

  • To provide clinical diagnostic test result from WES/WGS data
  • Incorporate ACMG (American College of Medical Genetics) professional guidelines
  • Support trio (patient, mother, father) analysis

TAT:
1.5 months

Family Gene Tracker

  • Requires Hereditary Diagnosis & Testing data
  • Involves PCR and Sanger sequencing for confirmation
  • Includes primer design and PCR optimization

TAT: Turnaround Time