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The diagnosis of cystic fibrosis is typically established through the sweat test, which is the primary method. This test checks for high levels of salt and chloride in the sweat. A diagnosis of cystic fibrosis is made when the chloride level in the sweat exceeds 60.
In addition to the sweat test, other diagnostic methods used for cystic fibrosis include:
* Genetic tests
* Chest X-ray
* Sinus X-ray
* Pulmonary function tests
* Sputum culture
* Stool (feces) tests
Since 2015, cystic fibrosis has been included in Turkey's national newborn screening program. Heel prick blood samples taken from newborns are screened for cystic fibrosis, in addition to hypothyroidism and other metabolic diseases. If a positive result is obtained from the heel prick blood test, there is no need to be alarmed, as this is merely a screening test and does not definitively confirm the presence of the disease on its own. If the initial test is positive, a second blood test is usually performed on the 14th day. For infants who test positive in the second blood test as well, a sweat test and, if necessary, genetic tests are conducted.
Even if the screening test is negative, it is advisable to perform comprehensive diagnostic tests for cystic fibrosis in children who exhibit clinical signs suggestive of the condition, especially if there is a history of consanguineous marriage between the parents or a history of sibling death. Patients who receive a diagnosis are started on appropriate treatments, and regular follow-up assessments, such as sputum tests and pulmonary function tests, are required during the monitoring period.
How is Cystic Fibrosis Diagnosed?
In addition to the sweat test, other diagnostic methods used for cystic fibrosis include:
* Genetic tests
* Chest X-ray
* Sinus X-ray
* Pulmonary function tests
* Sputum culture
* Stool (feces) tests
Since 2015, cystic fibrosis has been included in Turkey's national newborn screening program. Heel prick blood samples taken from newborns are screened for cystic fibrosis, in addition to hypothyroidism and other metabolic diseases. If a positive result is obtained from the heel prick blood test, there is no need to be alarmed, as this is merely a screening test and does not definitively confirm the presence of the disease on its own. If the initial test is positive, a second blood test is usually performed on the 14th day. For infants who test positive in the second blood test as well, a sweat test and, if necessary, genetic tests are conducted.
Even if the screening test is negative, it is advisable to perform comprehensive diagnostic tests for cystic fibrosis in children who exhibit clinical signs suggestive of the condition, especially if there is a history of consanguineous marriage between the parents or a history of sibling death. Patients who receive a diagnosis are started on appropriate treatments, and regular follow-up assessments, such as sputum tests and pulmonary function tests, are required during the monitoring period.