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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

  • Skin Cancer Panel

    Skin cancer is one of the most common types of cancer. The main types of skin cancers are: basal-cell cancer (BCC), squamous-cell cancer (SCC), and melanoma.

  • Alzheimer’s Disease Type 4 (AD4)

    Alzheimer’s disease (AD) is the most common form of dementia. The term dementia describes a set of symptoms that can include memory loss and difficulties with thinking, problem-solving or language. In early stages, AD patients typically have memory loss, confusion, and inability to learn.

  • Alzheimer’s Disease Type 3 (AD3)

    Alzheimer’s disease (AD) is the most common form of dementia. The term dementia describes a set of symptoms that can include memory loss and difficulties with thinking, problem-solving or language. In early stages, AD patients typically have memory loss, confusion, and inability to learn.

  • B-Positive SCID Panel

    Severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a block in T lymphocyte differentiation

  • B-Negative SCID Panel

    Severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a block in T lymphocyte differentiation.

  • Meckel Syndrome Panel

    Meckel syndrome (MES), also known as Meckel-Gruber syndrome, belongs to the group of ciliopathies, caused by dysfunction of primary cilia during embryogenesis.

  • Cone-Rod and Cone Dystrophy Panel

    Cone-rod dystrophies (CORD) are inherited retinal degenerations characterized by cone degeneration precedes the rod degeneration. Prevalence of CORD is estimated to be 1 in 40,000 1, 2. The early manifestations of CORD include decreased visual acuity, color vision defects, and photophobia, with…

  • Alzheimer Dementia and Dementia Panel

    Alzheimer’s disease (AD) is the most common form of dementia, affecting millions of people worldwide 1. Dementia is the loss of cognitive functioning, e.g. thinking, remembering, and reasoning, and behavioral abilities to such an extent that it interferes with a person’s daily life and activities

  • Mucopolysaccharidosis Type 2 (MPS II)

    Mucopolysaccharidosis type II (also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation and caused by lack of the enzyme iduronate sulfatase, encoded by the IDS gene.

  • Mucopolysaccharidosis Type ICH (MPS1-H)

    MPS I has been divided into three broad groups based on severity of symptoms: Hurler, Hurler-Scheie, and Scheie syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively; and the Hurler-Scheie syndrome is intermediate in…