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

  • GLB1-related disorders

    GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. GM1 gangliosidosis, also known as GLB1 deficiency, is estimated to occur in…

  • Niemann-Pick disease, type C

    Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type C is due to variants in one of two different genes, NPC1 and NPC2. It is characterized by progressive neurodegeneration with an estimated…

  • Gaucher disease

    Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. The disorder results from the deficiency of the enzyme glucocerebrosidase. The prevalence of GD is approximately 1 in 57,000 to 1 in 75,000 worldwide but the…

  • Pancreatic cancer

    Pancreatic cancer is one of the world’s most lethal malignant neoplasms, with a 5-year survival rate of about 5-7%. Pancreatic cancer now represents the fourth to fifth most frequent cause of cancer mortality in North America, Europe, and Japan. The incidence of pancreatic cancer varies greatly…

  • Fabry disease

    Fabry disease is a lysosomal storage disorder which will typically lead to the accumulation of the sphingolipid globotriaosylceramide (Gb3) in numerous organs of the body. The patients may presents with isolated symptoms (e.g. only pain or cerebrovascular disorders) or with multiple symptoms which…

  • Breast cancer

    Breast cancer is the most common cancer among women and it is the third leading cause of cancer death. Approximately 1 in 8 women (12%) will develop breast cancer in their lifetime. The risk factors include increasing age, inheritance susceptibility, alcohol intake, breast tissue density, estrogen,…

  • Usher syndrome

    Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause of combined deafness and blindness.

  • Gastric cancer

    Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma localized in the stomach wall. Gastric cancer is one of the most common cancers in the world, with the highest incidence rates in Japan (80 cases per…

  • Ovarian cancer

    Ovarian cancer is the most lethal of all gynecological cancers, and the annual incidence of ovarian cancer is 12.1 per 100,000 women. Familial ovarian carcinoma has been described in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Inherited in an autosomal dominant fashion, HBOC…

  • Periodic fever syndrome

    Periodic fever syndrome is a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The main inherited periodic fever syndromes are familial Mediterranean fever (FMF) caused by pathogenic variants in MEFV, periodic fever, familial caused by pathogenic…


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