Table 2.
Demographics, clinical summary, and RGS test results of the study cohort.
| Patient | Ward | Gender | Age | Clinical features | Cons | Test | Gene | Final diagnosis | TAT (h) | Status |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NICU | F | 2 days | Seizure (HP:0001250), encephalopathy (HP:0001298), macular dystrophy (HP:0007754), abnormal cranial MRI (HP:0032615) | + | Trio | IDH3A | IDH3A-related mitochondrial encephalopathy | 146.5 | Alive |
| 2 | NICU | F | 37 days | Hypotonia (HP:0001252), respiratory failure (HP:0002878), arthrogryposis multiplex congenita (HP:0002804), difficulty in sucking (HP:0002033), difficulty in feeding (HP:0011968) | – | Trio | – | FARIS (fetal acetylcholine receptor inactivation syndrome) | 155.5 | Alive |
| 3 | PICU | M | 10.5 months | Multiple congenital anomalies (anal atresia (HP:0002023), choanal atresia (HP:0000453), hypoplastic aortic arch (HP:0012304), abnormal pulmonary venous return (HP:0010772), arrhythmia (HP:0011675), hydrocephalus (HP:0000238), ectopic kidney (HP:0000086) | – | Duo | – | Multiple congenital abnormalities—unidentified etiology | 152.5 | Alive |
| 4 | PICU | M | 2.5 months | Seizure (HP:0001250), sepsis (HP:0100806), hemodynamic instability | – | Trio | – | Sepsis | 124 | Alive |
| 5 | PICU | F | 11 months | Respiratory distress/failure (HP:0002098; HP:0002878), mitral stenosis (HP:0001718), subvalvular aortic stenosis (HP:0001682), acromicria (HP:0031878), abnormal midface morphology (HP:0000309), short stature (HP:0004322) | – | Trio | FBN1 | Geleophysic dysplasia (#614185) | 145.5 | Deceased (post-test) |
| 6 | PICU | F | 7 months | Transposition of great arteries (HP:0001669), lactic acidosis (HP:0003128), sepsis (HP:0100806), microcephaly (HP:0000252), abnormal thrombosis (HP:0001977), abnormal immunoglobulin levels (HP:0010701) | + | Trio | – | Isolated congenital heart defect | 192 | Deceased (post-test) |
| 7 | NICU | F | 32 days | Coarctation of aorta (HP:0001680), microphthalmia (HP:0000568), bifid sternum (HP:0010309), supraumbilical raphe (HP:0410276), hemangioma (HP:0001028), optic nerve hypoplasia (HP:0000609) | – | Trio | – | PHACES (posterior fossa malformations, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, sternal defects) | 240 | Alive |
| 8 | PICU | F | 7 months | Respiratory distress/failure (HP:0002098; HP:0002878), abnormal immunological findings (HP:0002715), Sepsis (HP:0100806), shock (HP:0031273), allergy (HP:0012393) | – | Trio | – | Septic shock | 194 | Deceased (post-test) |
| 9 | NICU | M | 2 months | Low blood oxygen saturation (HP:0012418), metabolic acidosis (HP:0001942), lactic acidosis (HP:0003128), right ventricular hypertrophy (HP:0001667) | + | Trio | SCO1 | Mitochondrial complex 4 deficiency, nuclear type 4 (#619048) | 148 | Alive |
| 10 | NICU | M | 11 days | Prematurity, thrombocytopenia, coagulopathy, lactic acidosis (HP:0003128), hydronephrosis (HP:0000126), hemolytic anemia (HP:00001878), perirenal hematoma (HP:0030171) | – | Trio | – | Prematurity | 193 | Alive |
NICU, neonatal intensive care unit; PICU, pediatric intensive care unit; Cons, consanguinity; TAT, turnaround time.