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