Genetic Testing: Unlocking Answers for Your Family’s Genetic Health

Articles about Genetic Testing

• Genetic Testing

  

  Types of Genetic Tests for Developmental and Genetic Disorders in Children 

  There may be many obstacles along the way, including: Lack of access to the right medical attention, specialists, and care. Lack of access to the right information about the possible genetic syndrome or rare disease the family faces. The possibility of misdiagnosis. Being stranded in a diagnostic journey, unsure of where and how to access the right information or medical specialists and testing to reach a diagnosis. Lack of support as the family navigates a new reality and future.

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• Genetic Testing

  

  The Advantages of Genetic Testing

  Genetic testing involves the screening of an individual’s DNA and genetic information, in order to learn more about their genetic health.  Genetic testing may – Identify if an individual is a carrier for a genetic or chromosomal mutation or change

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• Genetic Testing

  

  Why Would a Doctor Order Genetic Testing?

  Genetic testing is a process that usually involves sampling an individual’s DNA, including their genetic and chromosomal information, in order to understand if they are the carrier of a genetic mutation that might cause a rare disease in themselves or their children. It can also identify if someone is at risk of developing a rare disease due to an identified gene mutation or change, or if someone actually has a rare disease or genetic syndrome.

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• Genetic Testing

  

  A Guide to Preconception Genetic Testing: What Prospective Parents Should Know

  Preconception genetic testing is testing which takes place before a couple decides to conceive. There are two main types of preconception genetic testing- carrier screening and preimplantation screening.  The aim of the carrier testing is to understand more about the genetic health of the parents, and what this might mean for the health of their children-to-be in the context of rare diseases.

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• Genetic Testing

  

  What is Genetic Testing for Turner syndrome?

  Turner syndrome is a rare disease known only to affect females. The exact prevalence of the syndrome is unknown, but it is believed to occur in every 1 in every 2,000 females born. Symptoms of the syndrome include a short stature, congenital heart defects, and a failure of the reproductive issues to develop.

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• Genetic Testing

  

  Genetic Diagnosis for Trisomy 13

  Trisomy 13 is caused when a person has three copies of chromosome 13 instead of the normal two. There are three types of this rare disease, each type is caused by variations in the third copy of chromosome 13.  The syndrome is not usually inherited, and most usually the result of spontaneous chromosomal changes. In some cases it may be caused by an inherited chromosomal event known as translocation.

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• Genetic Testing

  

  Genetic Diagnosis for Marfan syndrome

  Marfan syndrome is both a connective tissue disorder, and a congenital disorder, meaning present at birth, but the full range of its symptoms do not often develop until later into childhood, or even early adulthood in some cases.

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• Genetic Testing

  

  Genetic Diagnosis Ehlers-Danlos Syndrome

  It is a rare connective tissue disorder. There are several main types of the syndrome, each varying in their severity and cause.  EDS Classic/Musculocontractural Type 1 and Type 2 This is not the most common form of the syndrome. It is slightly more severe than the most common form of this rare disease, as it presents with additional symptoms, including fragile and stretchy skin, and possible heart issues. This form of the syndrome is caused by mutations in the

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• Genetic Testing

  

  Genetic Diagnosis for Angelman Syndrome

  Angelman syndrome is a rare disease, affecting around 500,000 people around the world. It is one of the more common, of the rare diseases, occurring in around 1 in every 15,000 live births in the US.  The main symptoms of the syndrome include developmental delay, sleep disturbances, and seizures.

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