This test is available for the following conditions:
Conditions > Fertility and pregnancy > PreConception carrier test (WES)
Whole exome sequencing (WES)
The PreConception carrier test (PCT) has been specifically developed for consanguineous couples with a childwish and constitutes a pre-conception risk assessment for the transmission of recessive disease, providing clinically relevant reproductive options for couples. The test is based on diagnostic WES (NGS) technology and interrogates a continuously updated MIM-based panel of genes associated with recessive disorders (>2000 genes).
Performing laboratory: Maastricht UMC+ Authorized material(s): EDTA blood, Isolated DNA