How to Diagnose a Genetic Disorder – Read Once Before Assuming

You might already be aware of the fact that each and every disease is linked with a certain genetic component. However, it is also important to have a proper knowledge about the genes and their contribution to certain diseases. If you understand the various genetic mechanisms, it can help in the proper diagnosis with the help of certain tests, and allow a person to be treated properly. It can also prevent the onset of the disease or prevent the severity of a disease.

Diagnosing the Genetic Disorders

You should have a detailed knowledge about the clinical signs like the family history. A family history can always suggest if anyone in the family had a genetic disease. You should also be aware of the different kinds of genetic diseases. The Branched DNA Assay can be used for detecting the genetic diseases. To know more about this test, you can visit

Generally, the doctors suspect the genetic conditions in accordance with the physical characteristics as well as the family history. Sometimes, the doctors also depend on the different results of any screening test. The approaches that are made for a genetic diagnosis normally include the following.

Physical Examinations: A few physical characteristics like the facial features can help in diagnosing the genetic disorders. Geneticists normally conduct thorough physical examinations, which include measuring the circumference of the head, the distance that separates the two eyes, and the size of the legs and arms.

The situation of a patient is considered and after that, specialized examinations are also conducted. These examinations include ophthalmologic exams or the neurological exams. Doctors can also use computerized tomography scans, x-rays, or MRI to get a detailed idea about the various structures within the body.

Personal Medical History: This includes the information about the health of an individual, which play an important role in providing different clues about a genetic diagnosis. This medical history normally includes the issues, surgeries, allergies, hospitalizations, medications and much more. Additionally, the outcomes of other genetic and medical tests are also considered.

Medical History of the Family: Various genetic conditions are known to be a part of the family, and this is why doctors require the medical reports of the family members of a particular patient. The medical history of the family is considered to be one of the most critical tools in order to diagnose the disorders.

Genetic counselors may ask about the health conditions of the patient’s siblings, children, parents, or even the distant relatives. This information helps in giving clues regarding the diagnosis as well as the pattern of inheritance of a particular condition.

Laboratory Tests: The biochemical, chromosomal, and molecular testing are used for diagnosing the genetic disorders. Furthermore, a number of laboratory tests, which are capable of measuring certain substances in the urine and blood help in suggesting a diagnosis.


Currently, genetic testing is available for a number of genetic conditions. Most of the doctors use the above methods and techniques for identifying the problem that an individual is facing.

Author bio –

Daniel Mattei is a Professional writer. He has written many articles on Health. You can visit


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