What happens when genetic testing reveals no cause for a disease? In such cases, the answer may lie beyond the genome. That’s where CeGaT’s ExomeXtra® comes in: It combines comprehensive genetic analysis with the ability to detect relevant viral infections. A recent clinical case demonstrates how powerful this is.
A patient without answers – at first
A 35-year-old male patient presented with thrombotic microangiopathy (TMA) and acute kidney failure (stage 5). The diagnosis of TMA was confirmed by histological examination of a kidney biopsy. Following this, genetic testing was initiated at CeGaT using ExomeXtra®. Next, all phenotypically relevant genes were analyzed, including genome-wide copy number variants (CNVs), but revealed no cause for disease. Instead, a striking and clinically significant finding emerged: A clear signal for multiple Parvovirus B19 genome copies was detected in the patient sample, indicating an ongoing Parvovirus infection.
Parvovirus B19 identified via ExomeXtra®
This virological result provided a critical diagnostic clue: Parvovirus B19 has been linked to TMA in rare cases, including in immunocompetent adults, as previously reported in the literature1. Based on this insight, the patient’s treatment was adjusted to address the viral infection, illustrating the direct clinical impact of the result.
ExomeXtra® diagnoses what others miss
CeGaT’s ExomeXtra® enhances exome diagnostics with the screening of ongoing infections. This includes pathogens such as Toxoplasma gondii, Varicella zoster virus, Cytomegalovirus, Parvovirus B19, Treponema pallidum, Epstein-Barr virus, and Herpes simplex virus types 1 and 2. Initially designed for prenatal diagnostics, this expanded approach has now proven valuable beyond that context. The present case illustrates how detecting a viral infection – in this instance, Parvovirus B19 – can directly influence clinical decision-making, even in adult patients. It highlights the broader potential of ExomeXtra® to deliver insights that standard services would miss – by combining excellent exome diagnostics with infection screening to achieve more comprehensive, patient-relevant answers.
References:
1 Prasad, B., St Onge, J. Parvovirus leading to thrombotic microangiopathy in a healthy adult. BMJ Case Rep; doi: 10.1136/bcr-2015-213492 (2016).