Question

How is cystic fibrosis detected? Can the diagnostic method be used for the detection of other genetic disorders? Explain your answer

Short answer

Cystic fibrosis is detected through methods like newborn screening, sweat tests, and genetic testing. Newborn screening measures the level of immunoreactive trypsinogen (IRT) in a newborn's blood, but it isn't specific enough for other genetic disorders. Sweat tests, on the other hand, specifically measure chloride concentrations in sweat and are exclusive to cystic fibrosis. Genetic testing analyzes DNA for mutations in the CFTR gene and can be used to detect other genetic disorders by targeting the associated genes and markers.

Step-by-step solution

1. Newborn Screening

Newborn screening is a test done on newborn infants to detect various genetic disorders, including cystic fibrosis. This test typically involves taking a blood sample from the heel of the newborn and measuring the level of immunoreactive trypsinogen (IRT) in the blood. Elevated IRT levels could indicate cystic fibrosis since the digestive system in people with CF produces more IRT than usual. With only the IRT test, it's not specific enough for detecting other genetic disorders, but other aspects of newborn screening can identify different conditions.

2. Sweat Test

The sweat test is a common diagnostic tool for confirming cystic fibrosis. This method measures the amount of chloride in the sweat. People with CF have a higher concentration of chloride in their sweat since the faulty CFTR protein is unable to regulate chloride and sodium transport across the cells, leading to the accumulation of salty sweat. Since this test specifically detects CF symptoms based on chloride concentration, it cannot be used to detect other genetic disorders.

3. Genetic Testing

Genetic testing for cystic fibrosis involves analyzing the DNA from blood or saliva samples to identify mutations in the CFTR gene. This can confirm a CF diagnosis and provide information about the specific CF-causing mutations. Genetic testing can indeed be used for detecting other genetic disorders, as long as the specific gene/s associated with those disorders are known and targeted during the test. In such cases, the DNA will be analyzed for mutations in different genes instead of the CFTR gene.

4. Conclusion

While cystic fibrosis can be detected using various methods such as newborn screening, sweat tests, and genetic testing, not all of these methods can be used for detecting other genetic disorders. Sweat tests are specifically tailored to measure chloride levels related to cystic fibrosis symptoms, rendering them unsuitable for detecting other conditions. On the other hand, newborn screening and genetic testing can be applied to a broader range of genetic disorders, as long as the associated genes and markers are targeted during the tests.

Key concepts

Newborn Screening

Newborn screening is a crucial early detection process for identifying potential genetic disorders in babies shortly after birth, including cystic fibrosis (CF). During this screening, a blood sample is taken from the newborn's heel to measure the level of immunoreactive trypsinogen (IRT).

Higher than normal IRT levels may suggest CF, since babies with CF have a pancreatic abnormality causing increased levels of this protein.

• The test is beneficial for early diagnosis.
• Timely detection can lead to better health management.

While the IRT test alone may not indicate other genetic disorders, the broader scope of newborn screening can detect other conditions if specific markers are included in the tests.

Sweat Test

The sweat test is widely used to confirm cystic fibrosis in individuals. This diagnostic tool measures the chloride content in sweat. A high concentration of chloride is a key indicator of CF because the defective CFTR protein in CF patients leads to an abnormal chloride and sodium transport across cells.

The procedure involves stimulating sweat production using a mild electric current and then analyzing the sweat sample.

• This test is painless and non-invasive.
• Typically performed at specialized clinical centers.

The sweat test is specifically designed for CF diagnosis and is not applicable for detecting other genetic disorders. It focuses on the salt balance issue caused by CFTR protein malfunction unique to cystic fibrosis.

Genetic Testing

Genetic testing plays a significant role in diagnosing cystic fibrosis by examining DNA from blood or saliva samples. This test identifies mutations in the CFTR gene responsible for over 1,000 different protein errors linked to CF.

Genetic testing provides a definitive CF diagnosis and helps understand which specific mutation a patient carries.

• Highly accurate in confirming CF presence.
• Can offer information on the severity of the condition.

Moreover, genetic testing is flexible enough to detect other genetic disorders if the associated genes are known. The DNA analysis can be expanded to multiple genes, enabling detection of different genetic issues.

CFTR Gene

The CFTR gene is central to understanding cystic fibrosis. This gene controls the production of the CFTR protein, which is crucial for regulating the movement of salt and water in and out of cells.

Mutations in the CFTR gene can cause the protein to malfunction leading to the symptoms observed in CF, such as thick mucus in the lungs and digestive tract.

• More than 1,000 mutations discovered so far.
• Each mutation affects protein functionality differently.

Knowing the specific mutation allows targeted treatment options, making genetic testing for CFTR mutations invaluable.

Genetic Disorders Detection

The detection of genetic disorders extends beyond cystic fibrosis and encompasses a range of tests tailored to identify different gene mutations. Key methods in this realm include genetic testing and newborn screening, which can pinpoint various conditions.

The suitability of these methods for diverse genetic disorders depends on their ability to target the relevant genes or biomarkers.

• Newborn screening can detect a variety of genetic issues early on.
• Genetic testing can be customized to find specific mutations across multiple genes.

These tools are fundamental for diagnosing genetic disorders, enabling early intervention and management, crucial for improving life quality and prognosis.