Table 1 Symptomatic patients with CMV identified by rWGS pipeline.
From: Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
Patient ID | CMV reads (#) | Age | Genetic diagnosis | Patient description | Standard care testing for CMV | TCP | Hep | AVT | Hearing test |
|---|---|---|---|---|---|---|---|---|---|
Patient 1 | 3 | 8 d | Dursun syndrome | Profound neutropenia and cerebral infarct | NT | Yes | No | No | Passed |
Patient 2 | 1,654 | 6 m | None found | Kaposiform hemangio-endothelioma with pneumocystis pneumonia | CMV plasma PCR negative. CMV serology positive. CMV in lungs on histopathology | Yes | Yes | No | NT |
Patient 3 | 2 | 9 m | None found | Transient pancytopenia, megaloblastic | NT | Yes | No | No | NT |
Patient 4 | 2 | 4 d | ASLD | Liver failure | NT | Yes | Yes | No | Passed |
Patient 5 | 634 | 2 m | Ebstein anomaly | Ebstein anomaly status post heart transplant | Positive plasma PCR (1,892 IU/mL) | Yes | Yes | Yes | Passed |
Patient 6 | 8 | 13 y | GPA | GPA with disseminated mucormycosis infection | Positive qualitative plasma PCR and bronchoalveolar lavage | Yes | Yes | No | NT |
