The diagnostic panels for the disease categories Epilepsy, Metabolic Diseases & Brain Development Disorders (EPI) and Mitochondriopathies (MIT) have been updated in accordance with the latest scientific findings.
As part of the update, the gene sets for metabolic diseases (MET) have been integrated into the Panel for Mitochondriopathies (MIT). This new, fourth version of the Panel for Metabolic Diseases including Mitochondriopathies now comprises 539 genes, divided into 14 gene sets for metabolic diseases and 9 for mitochondriopathies. The reorganization treats mitochondriopathies as part of metabolic diseases. A grouping of disease patterns was thereby created that offers the treating physician new differential diagnosis options.
Since the majority of the MET gene sets have been moved, the EPI panel has been renamed to Panel for Epilepsy & Brain Development Disorders. It now contains 7 gene sets for epilepsy and 11 for brain development disorders. Still part of the panel are the phenotypes for metabolic diseases that offer differential diagnosis options: congenital glycosylation disorders (MET01), lysosomal diseases (MET02), and peroxisomal biogenesis defects (MET03). In total, the panel now comprises 699 genes in 21 gene sets.
The following changes have been made to individual gene sets of the two panels:
- The gene set for epilepsy & developmental delay (incl. epileptic encephalopathies) (EPI02) has been extended by 18 genes.
- GPI anchor deficiencies / hyperphosphatasia (EPI12) has been supplemented by 5 genes.
- The number of analyzed genes for macrocephaly (BRN04) has been increased by 10.
- The gene set for Joubert’s syndrome (BRN07) can now be ordered as an integral part of the EPI panel.
- The gene set for Leukodystrophies and differential diagnoses (BRN10) now contains 51 additional genes.
- A new gene set is available for the diagnosis of the Kabuki syndrome (BRN11).
Please also note our cost and time efficient large panel approach. We always sequence all 699 (EPI) respectively 539 (MIT) genes of the panel and analyze the ordered gene set. As a result, we can quickly expand the analysis to other gene sets. Furthermore, we offer to check all genes of the panel for ACMG class 4 and 5 variants. All our diagnostic panels include a panel-wide deletion/duplication analysis – free of charge. We validate pathogenic deletions or duplications by means of MLPA or qPCR before we report them. The highest quality possible is our standard for diagnostics.