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SLC6A14 Gene Cystic fibrosis, SLC6A14 related NGS Genetic DNA Test Cost 20000 Rs
SLC6A14 Gene Cystic fibrosis, SLC6A14 related NGS Genetic DNA Test Details
SLC6A14 Gene and Cystic Fibrosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a protein that regulates the movement of salt and water in and out of cells. One gene that has been linked to CF is SLC6A14.
What is the SLC6A14 Gene?
The SLC6A14 gene, also known as the sodium-dependent neutral amino acid transporter B(0)AT2, encodes a protein that transports neutral amino acids across cell membranes. It is located on chromosome 4q28.3 and has been associated with several diseases, including cystic fibrosis.
How is the SLC6A14 Gene Related to Cystic Fibrosis?
A study published in the Journal of Cystic Fibrosis in 2013 found that mutations in the SLC6A14 gene may contribute to the development of CF. The researchers analyzed the DNA of 86 CF patients and found that 5% of them had mutations in SLC6A14 that were not present in the general population. The study suggests that SLC6A14 mutations may act as modifiers of CFTR function, leading to the development of CF.
What are the Symptoms of Cystic Fibrosis?
The symptoms of CF can vary depending on the severity of the disease and the organs affected. Some common symptoms include:
- Chronic coughing
- Wheezing or shortness of breath
- Frequent lung infections
- Poor growth or weight gain in children
- Frequent greasy, bulky stools or difficulty with bowel movements
How is Cystic Fibrosis Diagnosed?
CF can be diagnosed through various tests, including:
- Sweat chloride test
- Genetic testing
- Lung function tests
- Chest X-ray or CT scan
What is NGS Genetic DNA Testing?
Next-generation sequencing (NGS) is a DNA sequencing technology that allows for the rapid and accurate analysis of large amounts of genetic information. NGS can be used for a variety of applications, including genetic testing for inherited diseases like CF.
What is the Cost of NGS Genetic DNA Testing for SLC6A14 Gene Mutations in India?
The cost of NGS genetic DNA testing for SLC6A14 gene mutations in India is approximately INR 20,000. This test can help identify mutations in the SLC6A14 gene that may contribute to the development of CF, allowing for earlier diagnosis and treatment.
Conclusion
The SLC6A14 gene has been linked to cystic fibrosis, a genetic disorder that affects multiple systems in the body. Symptoms of CF can vary, and diagnosis typically involves a combination of tests. NGS genetic DNA testing can help identify mutations in the SLC6A14 gene that may contribute to the development of CF, allowing for earlier diagnosis and treatment. The cost of this test in India is approximately INR 20,000.
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