All disease-causing variants relating to the phenotype reported in HGMD®, ClinVar and CentoMD® (classes 1 and 2), as well as all variants with minor allele frequency of less than 1% in the ExAC database are considered in the medical interpretation. Class 1, 2, and 3 variants are evaluated. Variants that possibly impair the protein sequence are prioritized. All relevant inheritance patterns are considered based on the family history and clinical information submitted with the sample(s). CENTOGENE continuously assesses variants as new information becomes available internally and in the medical literature. When familial studies are recommended, familial variant testing is available for a small fee.

LifeLabs Genetics and CENTOGENE adhere to the “ACMG Recommendations for Reporting of Incidental Findings” and will not report on incidental findings that are not listed in these guidelines. However, it does mean that we will report variants detected in certain genes or classes of genes that are outlined in these recommendations as being medically actionable. Patients who prefer not to receive this information in their report, can opt out of this service. In case of Trio analyses, incidental findings are only analysed for the index patient. Carrier information of the parents for identified incidental findings of the index can be requested with new consent from the parents. Findings will be issued on individual reports. Incidental findings are not reported for fetal samples or samples from deceased persons.