Array Diagnostics

Array diagnostics

Genome Diagnostics Nijmegen offers genome wide array analysis to examine a person's DNA for copy number gains or losses, also called copy number variants (CNV's) and copy neutral  genomic imbalances (regions of homozygosity). So far, over 20,000 constitutional arrays have been performed in our laboratory.





Array diagnostics includes:
 
  • CNV analysis, homzygosity mapping, segmental and whole chromosome uniparental disomy
  • Genome wide DNA array-based analysis with 2,696,550 copy number and SNP markers distributed over human genome
  • Full clinical interpretation of array data within a comprehensive report

For more information about our array diagnostics service click here.

Costs and Turnaround time:
 
  • Price: €950
  • TAT:   5 weeks
  • Diagnostic yield array analysis: postnatal: ~15% / prenatal (after pre-screening): ~10%

Most common indications:
 
  • Intellectual disability
  • Multiple congenital anomalies
  • Fetal structural ultrasound anomalies (TAT <3 weeks)
  • Homozygosity mapping
  • Carrier testing in healthy family members
  • Hematological malignancies such as acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL) and myelodysplastic syndrome (MDS)

Available array tests:
   

Diagnostical yield in postnatal SNP-based array analysis:

*Based on 2015 results (1026 patients)

Diagnostical yield array