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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  • Albinism

    Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), a group of autosomal recessive disorders caused by a reduction of melanin biosynthesis in the melanocytes…

  • Charcot–Marie–Tooth (CMT) Neuropathy Gene Panel

    Charcot-Marie-Tooth (CMT) disease is a group of hereditary neuropathies, and represents one of the most common neurological conditions, characterized by a chronic motor and sensory polyneuropathy.

  • Lysosomal Storage Diseases (LSD) Panel

    Lysosomal storage diseases (LSD) are a heterogeneous group of inherited disorders characterized by the accumulation of partially digested or undigested macromolecules in cells, due to the absence of different lysosomal enzymes, which ultimately results in cellular dysfunction and clinical…

  • Cornelia de Lange Syndrome Panel

    Cornelia de Lange syndrome (CdLS) is a rare inherited multisystem developmental disorder characterized by distinctive craniofacial features, growth retardation with prenatal onset, intellectual disability, limb malformations, hirsutism, sensorineural hearing loss, myopia, nystagmus and…

  • Dementia Panel

    Dementia is a clinical syndrome of progressive deterioration of cognitive abilities and functional impairments. Approximately 25% of all people aged 55 years and older have a family history of dementia.

  • Neurofibromatosis

    Neurofibromatoses (NF) are a group of disorders characterized by the development of tumors in the nervous system. These benign tumors develop on the nerve sheath and are known as neurofibromas. Other findings include skin and bone abnormalities. The severity of the disease varies considerably even…

  • 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…

  • 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…

  • Ehlers-Danlos Syndrome and Related Disorders Gene Panel

    Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The signs and symptoms of EDS are highly variable, ranging from mild to life-threatening complications.

  • 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…