Test details

Turnaround times

Our turnaround times are 10 business days for diagnosis of a known variant, and 8 weeks for all other panels and exomes. 
There can occur some delay during holiday seasons.


Please contact our diagnostic staff for analyses costs.

Technical details

The NGS analysis comprises coding exons of the listed genes plus 10 bp of the flanking introns with a minimum coverage of 30x.

CNV analysis

All genes included in the ordered gene panel are analyzed for copy number variations (CNV).
We use the XHMM and Delly2 software for in-silico analysis of NGS data.

CNV findings are confirmed by the MLPA method, if possible.

For the gene PMS2 we apply both methods (MLPA and in-silico analysis) routinely.
Genes located on X- or Y-chromosome are not included in CNV analysis.

Genetic test report

We deliver written reports to the requisitioner, either electronically in pdf-format (MidtEPJ or by tunnel-crypted e-mail), or by postal mail/fax. We do not report by telephone.
Read more about our guidelines in Danish:


Please, contact our academic staff with any questions or for further information.