Short Description

NGS genetic DNA test detecets for variant and mutation detection in CSF2RB gene for Surfactant metabolism dysfunction type 5

PreTest Information

Clinical History of Patient who is going for CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Surfactant metabolism dysfunction type 5

Detail Description

CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 NGS Genetic DNA Test

CSF2RB gene surfactant metabolism dysfunction type 5 is a rare genetic disorder that affects the lungs. It is caused by mutations in the CSF2RB gene which provides instructions for making a protein that is important for the development and function of lung cells.

Individuals with CSF2RB gene surfactant metabolism dysfunction type 5 have difficulty breathing due to the accumulation of surfactant in the lungs. Surfactant is a substance that helps to keep the air sacs in the lungs open, allowing for efficient gas exchange.

Symptoms

The symptoms of CSF2RB gene surfactant metabolism dysfunction type 5 can vary in severity, but typically include:

• Shortness of breath
• Rapid breathing
• Coughing
• Wheezing
• Recurrent lung infections

Diagnosis

CSF2RB gene surfactant metabolism dysfunction type 5 is diagnosed through genetic testing. A genetic counselor can help to determine if testing is appropriate and can provide guidance on the testing process.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a type of genetic testing that allows for the analysis of multiple genes at once. This can be particularly useful for rare genetic disorders like CSF2RB gene surfactant metabolism dysfunction type 5.

The cost of the NGS genetic DNA test for CSF2RB gene surfactant metabolism dysfunction type 5 is INR 20,000.

Conclusion

CSF2RB gene surfactant metabolism dysfunction type 5 is a rare genetic disorder that affects the lungs. If you or a loved one is experiencing symptoms of this disorder, it is important to speak with a healthcare provider and consider genetic testing to receive a proper diagnosis. The NGS genetic DNA test is available for INR 20,000 and can provide valuable information for individuals and families affected by this disorder.

At DNA Labs India, we offer a range of genetic testing services, including the NGS genetic DNA test for CSF2RB gene surfactant metabolism dysfunction type 5. Contact us to learn more about our services and how we can help.