Short Description

NGS genetic DNA test detecets for variant and mutation detection in SFTPC gene for Surfactant metabolism dysfunction type 2

PreTest Information

Clinical History of Patient who is going for SFTPC Gene Surfactant metabolism dysfunction type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Surfactant metabolism dysfunction type 2

Detail Description

SFTPC Gene Surfactant Metabolism Dysfunction Type 2 NGS Genetic DNA Test

Surfactant metabolism dysfunction type 2 is a rare genetic disorder that affects the lungs. This disorder is caused by mutations in the SFTPC gene, which provides instructions for making a protein called surfactant protein C. This protein is essential for the proper function of the lungs, as it helps to keep the air sacs in the lungs from collapsing. When there is a mutation in the SFTPC gene, the production of surfactant protein C is disrupted, which can lead to breathing difficulties and lung damage.

Symptoms of Surfactant Metabolism Dysfunction Type 2

The symptoms of surfactant metabolism dysfunction type 2 can vary depending on the severity of the condition. Some common symptoms include:

• Rapid breathing
• Difficulty breathing
• Coughing
• Wheezing
• Retractions (when the skin between the ribs is sucked in with each breath)
• Blue tint to the skin, lips, or nails (cyanosis)
• Fatigue

These symptoms can occur at any age, but they typically appear in infants within the first few days or weeks of life.

Diagnosis of Surfactant Metabolism Dysfunction Type 2

The diagnosis of surfactant metabolism dysfunction type 2 is made through genetic testing. A sample of DNA is taken from the patient, typically through a blood or saliva test. This DNA is then analyzed using next-generation sequencing (NGS) technology to look for mutations in the SFTPC gene.

If a mutation is found, further testing may be needed to confirm the diagnosis. This may include imaging tests such as a chest X-ray or CT scan, as well as lung function tests to measure how well the lungs are working.

SFTPC Gene Surfactant Metabolism Dysfunction Type 2 NGS Genetic DNA Test Cost

The cost of the SFTPC gene surfactant metabolism dysfunction type 2 NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional testing that may be needed.

Conclusion

Surfactant metabolism dysfunction type 2 is a rare genetic disorder that can cause significant breathing difficulties and lung damage. Early diagnosis through genetic testing is important to ensure proper management and treatment of the condition. If you or a loved one is experiencing symptoms of surfactant metabolism dysfunction type 2, speak with your healthcare provider about genetic testing options.

For more information on genetic testing and DNA analysis, contact DNA Labs India today.