New phenotypically relevant disease-causing genes have been added to many of the panels including brain malformation, microcephaly, skeletal dysplasia, craniosynostosis and several other panels.
Asper Dermatology panels have been updated with multiple new genes highly relevant for differential diagnosis.
We have expanded our testing options for different types of hereditary ataxia. NGS panel has been updated up to 148 genes and several new tests are also available.
Left Ventricular Noncompaction Cardiomyopathy covers the analysis of 13 genes.
Several NGS panels have been updated, including panels for Brain Malformations, Spinocerebellar Ataxias, and Sensorineural Hearing Loss.
Dystonia, Charcot-Marie-Tooth disease, and spinocerebellar ataxias panels now include the analysis of disease-associated non-coding variants.
