CeGaT now offers nine new subpanels for neuromuscular diseases, Charcot-Marie-Tooth, and long QT-syndrome.
For further information please visit our Neurodegenerative Diseases section.
CeGaT has improved its Epilepsy, Migraine and Metabolic Disorder Panel. We have added 34 new genes, the Epilepsy, Migraine and Metabolic Disorder subpanels now include 361 genes. They have been grouped into 16 new subpanels, designed to represent different disease patterns:
- Subpanel 1: Generalized / Myoclonic Epilepsy, Febrile Seizures, Absences (38 Genes)
- Subpanel 2: Epileptic Encephalopathies (50 Genes)
- Subpanel 3: Epilepsy and X-linked Mental Retardation (29 Genes)
- Subpanel 4: CDG (Congenital Disorder of Glycosylation) Syndrome (24 Genes)
- Subpanel 5: Ceroidlipofuscinosis (9 Genes)
- Subpanel 6: Coenzyme Q Deficiency Syndrome (5 Genes)
- Subpanel 7: Joubert Syndrome (17 Genes)
- Subpanel 8: Selected Mitochondrial Disorders (36 Genes)
- Subpanel 9: Lysosomal Storage Disorders (60 Genes)
- Subpanel 10: Severe Microcephaly and Pontocerebellar Hypoplasia (22 Genes)
- Subpanel 11: Leukodystrophies and Disorders of Peroxisome Biogenesis (38 Genes)
- Subpanel 12: Disorders of the Ras/MAPK Pathway, Dysmorphic Syndromes and others (53 Genes)
- Subpanel 13: Neuronal Migration Disorders (43 Genes)
- Subpanel 14: Migraine (6 Genes)
- Subpanel 15: Hyperekplexia (5 Genes)
- Subpanel 16: Holoprosencephaly (9 Genes)
For further information please visit our Epilepsy and Migraine section.
With their Next-Generation Sequencing subpanel of 265 genes, Johannes Lemke and Saskia Biskup identified mutations in 16/33 patients with unclassified, presumably genetic epilepsy.
The results published in Epilepsia last week are quite impressive.
CeGaT offers now a new Diagnostic Panel for hereditary tumor diseases:
- Colon cancer/adenoma
- Breast/Ovarian Cancer
- Prostate Cancer
- other familial tumors
Actually CeGaT offers 60 different Subpanels for various disease symptoms.
For further information please visit our new Panel for tumor syndromes.