Molecular Diagnosis of Rare Inherited Disorders
The analysis of rare inherited disorders is performed using Whole Exome Sequencing (WES), a modern sequencing technique based on Next Generation Sequencing (NGS) technology. This method sequences the exons of approximately 20,000 protein-coding genes, representing about 1–2% of the human genome. Pathogenic variants responsible for rare genetic diseases are identified in approximately 85% of cases within these regions.
The test is accredited under ISO 15189:2022 by the Hellenic Accreditation System (ESYD).
Sample Type: Peripheral blood, amniotic fluid, chorionic villi
Turnaround Time: 30 working days