Genetic Counseling and Testing

Articles about Genetic Counseling and Testing

• Genetic Counseling & Testing

  

  What is Telegenetic Counseling?

  Online genetic counseling is taking off, and in the process removing barriers to accessibility that often prevent many rare disease patients and their families access crucial genetic counseling services. Genetic counseling is many things. First and foremost it is a critical, and essential, part of the diagnostic process. Anyone, be it an individual, couple, or family, facing a rare disease diagnosis or with a family history of a rare disease, should have access to genetic counseling services.

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• Genetic Counseling & Testing

  

  What is Prenatal Genetic Counseling?

  Within genetic counseling there are specific counseling services that allow those facing a rare disease diagnosis to receive targeted support, and care as they navigate the diagnostic process.  One of these services includes prenatal genetic counseling, a specialized type of genetic counseling for parents-to-be.

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• Genetic Counseling & Testing

  

  Genetic Counseling for Fragile X Syndrome

  Genetic counseling for Fragile X syndrome can be especially complex, in part due to how it is inherited and the gene mutations responsible for causing it.  Other complications arise from the fact that symptoms vary greatly between an individual, and may not always be obviously caused by Fragile X. Misdiagnosis is common within the rare disease field, and it takes an experienced and certified genetic expert to be able to make sense of the set of symptoms related to Fragile X, and the possible gene mutations responsible for causing it.

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• Genetic Counseling & Testing

  

  What is Genetic Counseling During Pregnancy?

  There are a number of reasons why a couple, or parent-to-be, may be referred to a genetic counselor during a pregnancy.  These include: Maternal age Maternal age is a known risk factor in the development of specific genetic syndromes. The older the age of the mother, for example, and the higher risk of having a baby born with Down syndrome. A mother-to-be, over the age of 35, may be referred to a genetic counselor to understand the risks and genetic testing options available, especially for syndromes where a higher maternal age is a known risk factor.

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• Genetic Counseling & Testing

  

  Genetic Counseling for Turner Syndrome

  Genetic counseling is more than just an option when faced with a Turner syndrome diagnosis, it is an essential part of the diagnosis, and testing process. No one should undergo screening and testing for Turner syndrome, without first initiating the process of genetic counseling.

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• Genetic Counseling & Testing

  

  Genetic Counseling for Down Syndrome

  Genetic counseling is a process, led by a genetic counselor, which supports patients and their families through a rare disease diagnosis. Any testing or analysis for a genetic syndrome, should start with genetic counseling. It provides immeasurable support for those undergoing genetic testing.

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• Genetic Counseling & Testing

  

  Online Genetic Counseling

  Answering important genetic counseling questions Genetic counseling is important for families with a history of rare disease or inheritance. It is also increasingly important for parents-to-be as the development of more advanced, and more widely available prenatal genetic tests, increase the awareness of rare diseases and the possibility of a diagnosis. A concern about a screening or test result will generally lead families to a genetic counselor either before or after their child is born.

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• Genetic Counseling & Testing

  

  Genetic Disorders Detected by Genetic Screening

  There are currently over 7,000 identified rare genetic disorders. In theory each of these can be detected by genetic screening, however knowing which rare disease you are looking for, can greatly enhance the accuracy of genetic testing.

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• Genetic Counseling & Testing

  

  Genetic Diagnosis of Rare Diseases: Key Steps and Implications

  Diagnosis of a rare disease can take two main forms.  A diagnosis can confirm that an individual is a carrier for a specific genetic mutation or chromosomal change, and at risk of developing a genetic syndrome themselves, or at risk of passing the mutation on to their future children.

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