Microcephaly and hereditary spastic paraplegia panels have been updated with multiple new genes.
Asper Biogene is attending the Annual Ataxia Conference, 10-13 March, organised by the National Ataxia Foundation. The conference will be held online and brings together leading ataxia experts.
All NGS panels in our testing menu now include CNV analysis. Panels for frontotemporal dementia, tuberous sclerosis, microcephaly, and hereditary spastic paraplegia cover the analysis of clinically relevant non-coding variants.
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.
Left Ventricular Noncompaction Cardiomyopathy covers the analysis of 13 genes.
