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.

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CentoPedia

  • Dilated cardiomyopathy

    Cardiomyopathies are disorders with primary abnormalities in the structure and function of the heart. Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and resulting contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal, sarcomere, and…

  • Hypertrophic cardiomyopathy

    Hypertrophic cardiomyopathy (HCM) is a global disease with cases reported in all continents, affecting people of both sexes and of various racial and ethnic origins. The incidence of HCM is approximately 1 in 500 in the general population. HCM is most commonly caused by pathogenic variants in one of…

  • Nemaline myopathy

    Nemaline myopathy (NEM, NM) is one of the most common congenital myopathies characterized by hypotonia, weakness, and absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. Nemaline myopathies (NEM) include at least six forms…

  • Non-syndromic sensorineural deafness

    Hearing loss, also known as deafness, is the inability of affected person to hear. Hearing loss can be caused by a number of different factors, including genetics, environment, birth complications, trauma, certain medications or toxins, and many others. Hereditary hearing loss (“congenital…

  • Fanconi anemia

    Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of…

  • Pancreatitis

    There are a variety of disorders of the pancreas including acute pancreatitis, chronic pancreatitis, hereditary pancreatitis, and pancreatic cancer. Signs and symptoms of pancreatitis may vary, depending on the disease. Hereditary pancreatic diseases are inflamatory diseases of pancreas, most often…

  • Bardet Biedl

    Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by retinal dystrophy, obesity, renal abnormalities, genital abnormalities, postaxial polydactyly, and learning difficulties. To date, mutations in more than 20 different genes have been described as being responsible…

  • Arrhythmia, hereditary

    Sudden unexplained death is a major source of mortality in developed countries; the major causes (in the absence of the structural heart disease) are primary cardiac arrhythmia syndromes or electrical cardiac diseases ('channelopathies').

  • Arrhythmogenic right ventricular cardiomyopathy

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is a heritable heart-muscle disorder which causes progressive replacement of right ventricular myocardium by fibrofatty tissue. ARVD is an important cause of sudden cardiac death (SCD) in young adults, accounting for 22% of cases…

  • Amyotrophic lateral sclerosis (ALS)

    Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder characterized by progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease. Since the discovery of mutations in gene encoding…


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