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

  • Publications about genetic testing for neurological disorders

    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 panel

    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…

  • Publications about genetic testing for neurological disorders

    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…

  • Publications about genetic testing for neurological disorders

    Mental retardation X-linked

    Intellectual disability (ID), also referred to as mental retardation (MR), is a lifelong disability that presents in infancy/early childhood and it is characterized by below-average intelligence and a lack of skills essential for every-day life. People with intellectual disabilities can learn new…

  • Publications about genetic testing for neurological disorders

    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…

  • Cataract

    Cataracts are a clouding of the lens in the eye, defined as opacification of the normally transparent crystalline lens. It is very common in older people and mostly related to aging. Cataracts can occur in one or both eyes affecting vision, i.e. clouding in the lens results in blurred vision.…

  • 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…