Retinal dystrophy
Test code: OKU-NGS
Inherited Retinal Dystrophy (IRD), including retinitis pigmentosa (RP), Leber congenital amaurosis (LCA) and syndromic retinal dystrophies.
NGS analysis of almost 400 IRD-related genes (such as RPE65), including known pathogenic intronic variants and CNV analysis.
NEW! Starting from January 2025, gene therapy for patients aged 4 to 35 years with Leber congenital blindness, caused by biallelic mutations of the RPE65 gene, is reimbursed in Poland.
Quality assessment for IRD (EMQN certificate)
Processing Time: Time: up to 12 weeks
Price: 3200.00 zł
We perform genetic testing from:
saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
