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To contact the Biomédica Department of Sistemas Genómicos please go to Biomédica
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If you wish to contact the Web Manager please go to the Webmaster
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The Genetic Diagnosis is the key part in the clinical management of inherited diseases and consists in determining the genetic cause of the studied pathology.
Alterations at the DNA level (Molecular Genetics) or alterations in chromosome number or structure (Cytogenetics) are the most frequent causes of the genetic diseases.
Obtaining an adequate Genetic Diagnosis will allow us to:
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Confirm a clinical diagnosis
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Determine the most efficient therapeutic measures
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Perform family studies such as presymptomatic or carrier diagnosis
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Apply preventive measures to avoid the transmission of the disease such as Prenatal Genetic Diagnosis or Preimplantation Genetic Diagnosis
The main clinical indications for a genetic test are:
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Confirmation of a clinical diagnosis
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Carrier diagnosis of recessive or X linked diseases
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Presymptomatic diagnosis of late onset diseases
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Clinical confirmation of a mutation previously identified in a research laboratory
Other genetics tests used in specific clinical circumstances are:
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Whole-genome array CGH
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Genetic linkage analysis
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Genetic informativity tests
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Genetic screening
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