September 25, 2024, Copenhagen – We are happy to announce the successful completion of the gMendel®Test SCAN pilot validation study, conducted in collaboration with Prof. Dr. Claus Højbjerg Gravholt at Aarhus University Hospital. This study involved 356 blinded samples including individuals with Klinefelter syndrome (KFS), Turner syndrome (TS), other disorders of sex development (DSD), and healthy donors.
Once results from Phivea® were retrieved, the specific karyotype/disease for each of the samples was revealed. To calculate diagnostic sensitivity and diagnostic specificity, the number of true positive (TP), true negative (TN), false positive (FP) and false negative (FN) from four different sequencing runs were calculated.
Key results from the Performance Evaluation Report include:
✅ Diagnostic Sensitivity: 95.4%
✅ Diagnostic Specificity: 97.8%
✅ Positive Likelihood Ratio: 2.39
✅ Negative Likelihood Ratio: 0.0005
Our CSO, Dr. Carmen Garrido Navas, remarked:
“The results confirm the robustness of the gMendel®Test SCAN methodology, with detailed metrics on sensitivity, specificity, and cost per test compared to existing methods.”
Dr. Gjorgji Madjarov, our CAIO, highlighted:
“These findings support commercial adoption and demonstrate competitive performance within the current landscape.” We are proud of the progress made and excited for the future of gMendel®Test SCAN in advancing genetic diagnostics and improving patient outcomes!