Bio Spec Overview
Ignite Creation Date:
2025-12-24 @ 7:16 PM
Last Modification Date:
2025-12-24 @ 7:16 PM
Retention:
SAMPLES_WITH_DNA
Description:
Most of the affected patients have genetic screening of genes involved in ocular developmental defects for diagnosis purpose. Thanks to the organisation of the French geneticists' network, molecular diagnostics of the main genes involved in these ocular defects is centralized in the two principal investigators' laboratory. A panel of 25 genes will be screened by highthroughput sequencing in the laboratory in incident patients and prevalent ones with no previously identified mutation. If no known mutation is identified in a given patient, screening for new genes, once identified as involved in these malformations, will be performed using samples collected and stored at the CHU de Toulouse as part of the current procedure for diagnostic analyses.
Section:
Most of the affected patients have genetic screening of genes involved in ocular developmental defects for diagnosis purpose. Thanks to the organisation of the French geneticists' network, molecular diagnostics of the main genes involved in these ocular defects is centralized in the two principal investigators' laboratory. A panel of 25 genes will be screened by highthroughput sequencing in the laboratory in incident patients and prevalent ones with no previously identified mutation. If no known mutation is identified in a given patient, screening for new genes, once identified as involved in these malformations, will be performed using samples collected and stored at the CHU de Toulouse as part of the current procedure for diagnostic analyses.