To increase clinical usability, the composition of the gene sets for the diagnosis of mitochondriopathies has been revised. Six new hereditary metabolic disorders can now be diagnosed using their own gene sets.
The new Panel for Metabolic Diseases and Mitochodriopathies includes five gene sets for mitochondriopathies and 16 gene sets to diagnose various metabolic disorders. In total, the panel now contains 543 genes.
The gene sets for mitochondriopathies have been updated to the following:
- The gene set for nuclear-encoded mitochondriopathies (MIT-02) was revised based on the latest scientific findings and extended by 31 genes.
- Chronic progressive external microphthalmias (MIT-09) can now be requested as a separate gene set.
For a precise determination of the plasma degree, the mitochondrial genome analysis (MIT-01) is performed via the SNaPshot procedure (unless NGS data are generated).
Five additional gene sets for non-primary mitochondrial metabolic disorders can now be used for precise diagnoses of the following inherited metabolic diseases:
- Molybdenum Cofactor Deficiency (MET-16).
- Cerebral folate deficiency (MET-17)
- Porphyria (MET-18)
- Other/Further peroxisomal disorders (MET-19)
- Disorders of intracellular cobalamin (vitamin B12) metabolism (MET-20)
The gene set for hyperinsulinemic hypoglycemia has been replaced by the gene set for congenital hyperinsulinism (MET-12) and expanded by eight genes. In addition, many other, often very rare, hereditary metabolic diseases can be investigated upon request. We also analyze and interpret unlisted entities or individually assembled genes for you. For the selection of individual sets, we recommend using the IEMbase (Inborn Errors of Metabolism Knowledgebase).
We will gladly assist you in selecting the best diagnostic strategy for your patients. Just call us at +49 7071 565 44 55 or contact us by mail at diagnostic@cegat.de.