PreConception carrier test (WES)

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).
 

Panel version: DG-4.2.0

• Previous versions

  2025-04-05-DG-4-1-0
  2025-01-21-DG-4-0-0
  2024-05-21-DG-3-9-0
  2023-08-31-DG-3-7-0
  2023-04-05-DG-3-6-0
  2022-12-05-DG-3-5-0
  2022-04-19-DG-3-4-0
  2022-01-13-DG-3-3-0
  2021-09-16-DG-3-2-0
  2021-03-23-DG-3-1-0
  2020-12-02-DG-3-0-0
  2020-04-20-DG-2-1-8
  2019-12-06-DG-2-1-7
  2019-06-07-DG-2-1-6
  2019-01-31-DG-2-1-5
  2018-10-08-DG-2-1-4

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

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