VITREORETINOPATHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 29 genes
Delivery time
3-4 weeks
Sample
Blood
The Vitreoretinopathy Panel is designed for the molecular diagnosis of inherited vitreous and retinal disorders, a heterogeneous group of pathologies that includes familial exudative vitreoretinopathy (FEVR), Stickler syndrome, Wagner syndrome, and other forms of congenital and progressive retinopathy. These diseases are associated with variable vision loss, retinal detachment, abnormal vascularization, high myopia, and vitreous degeneration. Next-generation sequencing (NGS) allows for the detection of variants in genes involved in vitreous formation, collagen, and Wnt signaling, facilitating accurate diagnosis and family genetic counseling. Genes analyzed include: COL2A1, COL11A1, COL9A1, FZD4, LRP5, NDP, VCAN, TSPAN12, BEST1, and others. You can consult the complete list of analyzed genes by contacting Genotica.
Other tests
Exome panel analysis of 29 genes - idiopathic pulmonary fibrosis and surfactant protein deficiency
990,00€
511 gene analysis - epilepsy (using exome sequencing)
1.495,00€
Exome analysis of AGXT, GRHPR, and HOGA1 genes - primary hyperoxaluria
690,00€