- Home
- Science
Science & education
Scientific articles
-
Variant reclassification: when, why, how
Discover how CENTOGENE’s variant reclassification enables us to provide you with the latest and highest quality data for the most up-to-date diagnosis.
-
Dejerine-Sottas syndrome panel
Dejerine-Sottas syndrome (DSS) is a hereditary neuropathy is a severe phenotype of Charcot-Marie-Tooth disease (CMT). It is characterized by early-onset (first 2 years of life), delayed motor development, slow nerve…
-
Spinocerebellar ataxias (SCA) comprehesive panel
Spinocerebellar ataxias (SCA) are a group of hereditary neurological disorders characterized by slowly progressive ataxia accompanied by cerebellar degeneration. Ataxia is gait imbalance associated with limb…
-
Glucosylsphingosine is a reliable response biomarker
Perusing our research quest for selective and specific biomarkers we have designed and performed a research study involving potential biomarkers for Gaucher disease and we have identified a glucosylsphingosine as a…
-
SMN-negative spinal muscular atrophy panel
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. The onset of muscle weakness ranges from the prenatal period to…
-
A variant in NUDT2 causes a recessive neurodevelopmental disorder
A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.
-
Obesity gene panel
Obesity is an increasingly common complex condition caused by several genetic and non-genetic risk factors and it is correlated with increased risks for diabetes type 2, heart diseases and cancers. It is a neuroendocrine…
-
Fragile X syndrome genetic testing
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and one of the leading causes of monogenic forms of autism. FXS is a repeat disorder caused by the expansion and methylation of CGG…
-
PGL/PCC/GIST gene panel
Paragangliomas (PGL) are tumors that arise from neuroendocrine tissues along the vertebrae. They can hypersecrete catecholamines or be non-secretory. Pheochromocytomas (PCC) are PGL tumors confined to the adrenal glands…
-
Rapid intravenous enzyme infusion
In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from…
