Frequently Asked Questions


Test quality type A, C or A/C

NGS panels are performed and analyzed in quality type A, C or A/C. For all NGS panels we strive for a coverage > 30 reads. The quality types are classified according to Matthijs G et al., Eur J Hum Genet 2015; doi: 10.1038.

  • Quality Type A: genes analyzed have guaranteed coverage of 100%. Low-coverage areas (< 30 reads) in the NGS test are analyzed by additional Sanger sequencing.
  • Quality Type C: NGS analysis only, genes analyzed have no additional sanger sequencing of an area with low coverage.

Core-NL: genes, which are considered essential for a reliable diagnosis for a certain disorder (Weiss MM et al., Human Mut 2013; 34: 1313-1321). These genes are identified and compiled by all the academic genetic centers of the Netherlands. A core-NL gene in a gene-panel is always fully analyzed in quality A. (List of core-NL-genes

A core-NL gene is marked when present in a panel.

For certain disorders, copy number variation (CNV, exon deletions/ duplications) analysis is required. Note: CNV analysis can be performed on submitted EDTA blood-samples, only.

WES based laboratory operations and declarations are carried out at Genome Diagnostics, Amsterdam UMC, Location VUmc (RvA M130).

Rapportage nevenbevindingen: Met het aanvragen van WES-gebaseerde (pakket)analyses gaan we ervan uit dat aanvrager de kans op nevenbevindingen met de patiĆ«nt heeft besproken. Zie voor meer informatie:

In aangegeven NGS pakketten wordt copy number variation (CNV) analyse gedaan om exon deleties/ duplicaties te detecteren. Deze CNV test werkt UITSLUITEND betrouwbaar op ingestuurd EDTA bloed en NIET op ingestuurd DNA