DIAGNOSTIC OF GENETIC DISEASES
Genetic disorders account for a major part of the workload of clinical medicine. However, some of these disorders can benefit from the newest and most sophisticated of the techniques, by determining an anomaly located in the DNA: genetic diagnosis.
Genetic tests are used for several reasons, including:
- Prenatal diagnostic testing (and genetic counseling to the family)
- Newborn screening
- Confirmational diagnosis of a symptomatic individual = confirm a suspected diagnosis
- Presymptomatic testing for predicting adult-onset disorders or for estimating the risk of developing adult-onset cancers and other diseases
- Initiate early remedial and/or preventive treatment, in particular in the case of late-onset disorders
- Carrier screening, by identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
- Preimplantation genetic diagnosis
Simplicity of testing: on many postnatal diagnostic testing, it is possible to perform the test from saliva.
DIAGNOSTIC OF GENETIC DISEASES
Genetic disorders account for a major part of the workload of clinical medicine. However, some of these disorders can benefit from the newest and most sophisticated of the techniques, by determining an anomaly located in the DNA: genetic diagnosis.
Genetic tests are used for several reasons, including:
- Prenatal diagnostic testing (and genetic counseling to the family)
- Newborn screening
- Confirmational diagnosis of a symptomatic individual = confirm a suspected diagnosis
- Presymptomatic testing for predicting adult-onset disorders or for estimating the risk of developing adult-onset cancers and other diseases
- Initiate early remedial and/or preventive treatment, in particular in the case of late-onset disorders
- Carrier screening, by identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
- Preimplantation genetic diagnosis
Simplicity of testing: on many postnatal diagnostic testing, it is possible to perform the test from saliva.