Short Description

NGS genetic DNA test detecets for variant and mutation detection in SERPINA1 gene for Antitrypsin-alpha-1 deficiency

PreTest Information

Clinical History of Patient who is going for SERPINA1 Gene Antitrypsin-alpha-1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Antitrypsin-alpha-1 deficiency

Detail Description

SERPINA1 Gene Antitrypsin-alpha-1 Deficiency NGS Genetic DNA Test

Antitrypsin-alpha-1 deficiency is a genetic disorder that affects the lungs and liver. This condition is caused by mutations in the SERPINA1 gene. The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin (AAT), which is produced mainly in the liver and protects the lungs from damage. When the SERPINA1 gene is mutated, AAT production is reduced or the protein is misfolded and cannot function properly. This leads to the accumulation of damaged proteins in the liver and lungs, causing respiratory and liver diseases.

Symptoms of Antitrypsin-alpha-1 Deficiency

The symptoms of antitrypsin-alpha-1 deficiency vary from person to person. Some people with the condition may have no symptoms, while others may experience severe lung or liver problems. Common symptoms of antitrypsin-alpha-1 deficiency include:

• Shortness of breath
• Wheezing
• Coughing up blood
• Frequent lung infections
• Chronic obstructive pulmonary disease (COPD)
• Liver disease
• Jaundice
• Abdominal pain
• Swelling in the legs or abdomen

Diagnosis of Antitrypsin-alpha-1 Deficiency

Antitrypsin-alpha-1 deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can detect mutations in the SERPINA1 gene and provide a definitive diagnosis. In addition, lung function tests, liver function tests, and imaging studies may be used to evaluate the extent of lung and liver damage caused by the condition.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for antitrypsin-alpha-1 deficiency in India is approximately INR 20,000. This cost may vary depending on the testing facility and other factors.

Conclusion

Antitrypsin-alpha-1 deficiency is a genetic disorder that can cause serious lung and liver problems. Early diagnosis through NGS genetic DNA testing can help patients receive appropriate treatment and management of their condition. The cost of this test in India is relatively affordable, making it accessible to more people.

If you or a loved one is experiencing symptoms of antitrypsin-alpha-1 deficiency, it is important to seek medical attention and consider genetic testing. DNA Labs India offers reliable and affordable NGS genetic DNA testing for a wide range of genetic disorders, including antitrypsin-alpha-1 deficiency.

Contact DNA Labs India today to learn more about our genetic testing services and how we can help you get the answers you need.