A person’s physical characteristics can lead to suspecting that the individual might be diagnosed with some or the other disease. The family history and also the results of a screening test are also taken into consideration. Genetic testing is one of the many tools that are used to diagnose genetic conditions.

Here are some of the approaches while a diagnosis of any disease.

Physical Examination

There are specific physical characteristics that can suggest if there is some genetic disorder. A gene expert, commonly known as geneticist examines an individual through a physical examination. The examination can also include measurements of the distances between the eyes. Also, the length of the arms and legs and the Nervous system exams might be carried out. In certain cases, there can be tests like x-rays, computerized tomography (CT) scans, or magnetic resonance imaging (MRI) which studies the internal body.

Medical History

The information about any personal health and also some questions that can date back to birth provide clues to a genetic diagnosis. Medical history consists of previous health issues, hospitalizations and surgeries, allergies, medications, and the results of any medical or genetic testing that has already been done.

Genetic conditions run into the family and information of the family members is a critical tool for diagnosing these disorders.This information can give clues about the diagnosis and inheritance pattern of a genetic condition in a family.
Genetic testing is currently available for many genetic conditions. However, some conditions do not have a genetic test; either the genetic cause of the condition is unknown or a test has not yet been developed. In these cases, a combination of the approaches listed above may be used to make a diagnosis. Even when genetic testing is available, the tools listed above are used to narrow down the possibilities (known as a differential diagnosis) and choose the most appropriate genetic tests to pursue.

A diagnosis of a genetic disorder can be made anytime during life, from before birth to old age, depending on when the features of the condition appear and the availability of testing. Sometimes, having a diagnosis can guide treatment and management decisions. A genetic diagnosis can also suggest whether other family members may be affected by or at risk of a specific disorder. Even when no treatment is available for a particular condition, having a diagnosis can help people know what to expect and may help them identify useful support and advocacy resources.

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