We have updated the cataract panel with 14 new genes.
Dystonia, Charcot-Marie-Tooth disease, and spinocerebellar ataxias panels now include the analysis of disease-associated non-coding variants.
Female infertility and male factor infertility panels have undergone an extensive upgrade. The panels now consist of 128 and 138 genes respectively.
We now offer a new panel for testing congenital fibrosis of extraocular muscles. In addition, we have updated our comprehensive eye diseases panel to include up to 288 genes.
We now offer a new test for Mucopolysaccharidosis. Comprehensive panel for Lysosomal Storage Diseases is also available.
Several NGS panels have been updated, including panels for Brain Malformations, Spinocerebellar Ataxias, and Sensorineural Hearing Loss.