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.
Congenital Adrenal Hyperplasia testing is now available. The test includes sequencing and deletion/duplication analysis of the CYP21A2 gene.