Genetics in a nutshell

CentoPedia – your essential epitome for genetic diagnostics.

Given the complexities of rare diseases, the limited natural history data, and the smaller pool of patients to participate in clinical development, CentoPedia supports you with background information on clinical pictures, involved genes and the recommended testing strategy.

  1. CentoPedia

CentoPedia

  • Bone marrow failure

    Bone Marrow Failure is a clinically and genetically heterogeneous collection of diseases affecting hematopoiesis, resulting in reduced or abnormal production of one or more of the three blood cell types (red blood cell, white blood cell and platelets). Symptoms and onset vary greatly depending on…

  • Comprehensive dystonia panel

    Dystonias are a diverse spectrum of neurological movement conditions characterized by sustained muscle contractions (spasms) causing repetitive twisting movements or abnormal postures. Dystonia can be a chronic and disabling condition, localized to areas such as the head and neck or individual…

  • Myeloid tumor panel

    Myeloid malignancies are clonal diseases of hematopoietic progenitor cells (cells that are capable of multiplying and producing additional blood cells of a particular lineage) resulting from genetic and epigenetic alterations that disrupt proliferation, differentiation and self-renewal of…

  • Familial hypercholesterolemia panel

    Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by severe elevations in total cholesterol and low-density lipoprotein cholesterol levels that lead to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age, leading to an…

  • 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 conduction velocity and severe loss of myelinated fibers in nerve biopsy.

  • 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 incoordination and loss of fine and gross motor control. The most common types of SCA are…

  • 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 adolescence or young adulthood, with infantile-onset SMA being the most common…

  • 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 condition caused by combined effects of both environmental and genetic risk…

  • 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 trinucleotide repeats in the FMR1 gene to over 200 repeats (Normal allele = 44…

  • 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 and usually secrete catecholamines. Gastrointestinal stromal tumors (GIST) are…