Whole Exome Sequencing in the NICU

  • Clinical Presentation:
    • 6-month-old male, previously healthy and developmentally normal
    • Respiratory arrest requiring intubation
    • Severe left ventricular hypertrophy
    • Hypotonia
  • BG Test: 
    • Critical Trio WES
  • Results:
    • A pathogenic hemizygous variant identified in AIFM1, C.603_605del (p.R201del)
    • Patient diagnosed with Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
  • Clinical Management After Test:
    • Cardiology transplantation team decides the patient is not a candidate for transplant.
    • Targeted treatment and management plan for COXPD6 devised and commenced
    • Enabled important decisions regarding long-term care