| Furthermore, epidemiologic data in presymptomatic individuals with longitudinal follow-up are not well-established. |
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| Chronic hepatitis C virus infection has a long course, and most patients are diagnosed in a presymptomatic stage. |
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| It may be a very large proportion in the case of a presymptomatic diagnosis of a dominant single gene disease such as Huntington's chorea. |
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| Indeed, presymptomatic genetic diagnoses have enabled countless people to live longer and healthier lives. |
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| In paediatrics for example, a conventional example of presymptomatic tests is that of the phenylalanine-hydroxylase deficit. |
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| A current classification divides genetic tests into preclinical or presymptomatic tests and tests for the assessment of genetic susceptibility. |
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| Such prevention includes a presymptomatic genetic screening of diseases which can be effectively managed before the appearance of any symptoms. |
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| Discrimination based on the results derived from presymptomatic or probabilistic genetic testing would therefore be illicit. |
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| The patients had a family history of MLD and displayed genetic evidence of infantile MLD but were presymptomatic at the time of therapy. |
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| In these situations, a presymptomatic test reveals those who have inherited the mutant gene, but no preventive action for them can be offered. |
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| This information is expressed in percentages and probabilities, in the language of susceptibility, lateonset, presymptomatic and predisposed! |
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| The first completely dominant human genetic disease to come to light, Huntington disease is also one of the first diseases for which presymptomatic testing became available. |
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| In the case of genetic disease, options often exist for presymptomatic diagnosis that is, diagnosis of individuals at risk for developing a given disorder, even though at the time of diagnosis they may be clinically healthy. |
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| On the other hand, where effective preventive treatment does not exist, the use of predictive or even presymptomatic tests would appear to be debatable. |
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| In such situations, a presymptomatic test means that carriers of the mutant gene can be given the opportunity of benefiting from preventive medical supervision and possibly curative action. |
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| While some governments have outlawed the use of presymptomatic genetic testing information by insurance companies and employers, others have embraced it as a way to bring spiraling health-care costs under control. |
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| For carrier, presymptomatic and susceptibility testing, the patient is often asymptomatic and the test result may be the sole indicator of increased risk. |
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| For example, mutations responsible for familial cancers of the breast and colon have been identified, enabling presymptomatic testing of individuals in at-risk families. |
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| Tests that reveal an increased susceptibility to tumours in children have proved, for example, to be useful in the presymptomatic diagnosis of retinoblastoma but are far less useful for other types of tumours. |
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| After considerable thought on the subject in associations of families affected by the disease and medical practitioners, a protocol was drawn up for the application of presymptomatic testing. |
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| For instance, the presymptomatic diagnosis of the mutation causing familial adenomatous polyposis allows the possibility of preventive follow-up and treatment. |
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| The infant responded to balloon dilation of the upper esophageal sphincter, with resolution of symptoms and return to presymptomatic growth parameters. |
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