Short Description

NGS genetic DNA test detecets for variant and mutation detection in MKS1 gene for Meckel syndrome type 1

PreTest Information

Clinical History of Patient who is going for MKS1 Gene Meckel syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MKS1 Gene Meckel syndrome type 1 NGS Genetic DNA Test gene MKS1

Detail Description

MKS1 Gene: Meckel Syndrome Type 1 NGS Genetic DNA Test Cost

Meckel Syndrome Type 1 (MKS1) is a rare genetic disorder that affects the development of multiple organs in the body. It is caused by mutations in the MKS1 gene, which provides instructions for making a protein that is important for the development and function of cilia. Cilia are tiny, hair-like structures that line the respiratory tract, fallopian tubes, and other organs. They help move fluids through the body and play a critical role in embryonic development.

Symptoms of Meckel Syndrome Type 1 can vary widely, but typically include kidney cysts, liver fibrosis, brain abnormalities, and polydactyly (extra fingers or toes). The severity of the symptoms can vary widely, even among individuals with the same mutation.

Diagnosis of Meckel Syndrome Type 1

Diagnosing Meckel Syndrome Type 1 can be challenging because the symptoms are so varied. However, genetic testing can help confirm a diagnosis. The most common type of genetic testing for Meckel Syndrome Type 1 is Next Generation Sequencing (NGS), which can detect mutations in the MKS1 gene.

NGS is a powerful tool that can analyze large amounts of genetic data quickly and accurately. It can detect small mutations that other types of genetic testing may miss. NGS is also less invasive than other types of genetic testing, such as amniocentesis, which involves taking a sample of amniotic fluid from the womb.

Cost of Meckel Syndrome Type 1 NGS Genetic DNA Test

The cost of Meckel Syndrome Type 1 NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the laboratory and the specific type of genetic testing that is performed.

Conclusion

Meckel Syndrome Type 1 is a rare genetic disorder that can cause a range of symptoms, including kidney cysts, liver fibrosis, brain abnormalities, and polydactyly. Genetic testing, particularly NGS, can help confirm a diagnosis of Meckel Syndrome Type 1. The cost of Meckel Syndrome Type 1 NGS Genetic DNA Test in India is approximately INR 20,000. If you or someone you know is experiencing symptoms of Meckel Syndrome Type 1, it is important to speak with a healthcare professional and consider genetic testing.

For more information about genetic testing and Meckel Syndrome Type 1, please contact DNA Labs India.