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Comprehensive preconception carrier test panel¹

This test is available for the following conditions:

Conditions > Fertility and pregnancy > PreConception carrier test (WES)

Turnaround time
Regular: 2 months / Rapid: 4 weeks

Method

Exome analysis (WES or WGS data)

Remarks
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 mendelian panel of genes associated with recessive disorders (n>2000).

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Kind of analysis

Duo analysis for consanguineous couples – TAT: 2 months

Rapid duo analysis by <14 weeks pregnancy – TAT: 4 weeks

€ 1275

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