MUTATION DIAGNOSTICS (CARRIER TESTING)

Mutation diagnostics


Genome Diagnostics Nijmegen offers two types of mutation diagnostics:

  • carrier testing of known mutation(s) in family members
  • (prenatal) carrier testing of known mutation(s) in (unborn) fetus

To order one of the above tests, please fill in the reason for referral on our request form.

Familial mutation testing includes:
 
  • Sequencing a specific part of a given gene
  • Full clinical interpretation of mutations within a comprehensive report

Costs and Turnaround time:
 
  • Price: €350 per gene per individual
  • TAT:   4 weeks
Prenatal carrier testing includes:
 
  • Sequencing a specific part of a given gene
  • Molecular testing of maternal cell contamination (MCC)
  • Full clinical interpretation of mutations within a comprehensive report
Costs and Turnaround time:
 
  • Price: €800
  • TAT:   2-3 weeks