PreConception carrier test (WES)

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Exome

WES comprehensive preconception carrier test ¹

Turnaround time
Regular: 3 months / Rapid: 15 working days

Performing laboratory
Maastricht UMC+

€ 1700

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WES comprehensive preconception carrier test ¹

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Gene panel analysis and exome wide analysis- 2 separate reports

kind of analysis

Duo analysis for consanguineous couples

€ 1700

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WES comprehensive preconception carrier test ¹

This test is available for the following conditions:

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

Turnaround time
Regular: 3 months / Rapid: 15 working days

Method

Whole exome sequencing (WES)

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 MIM-based panel of genes associated with recessive disorders (>2350 genes).

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA

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)

Gene panel analysis and exome wide analysis- 2 separate reports 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

€ 1700

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