Short Description

NGS genetic DNA test detecets for variant and mutation detection in PTPN11 gene for Noonan syndrome type 1

PreTest Information

Clinical History of Patient who is going for PTPN11 Gene Noonan syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PTPN11 Gene Noonan syndrome type 1 NGS Genetic DNA Test gene PTPN11

Detail Description

PTPN11 Gene and Noonan Syndrome Type 1: Understanding Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Noonan Syndrome Type 1 is a genetic disorder that affects various parts of the body. It is caused by mutations in the PTPN11 gene, which provides instructions for making a protein that is important for cell signaling and communication. The PTPN11 gene mutations cause the protein to be overactive, leading to the abnormal development and growth of different body systems.

Symptoms of Noonan Syndrome Type 1

The symptoms of Noonan Syndrome Type 1 can vary widely from person to person. Some of the common signs and symptoms include:

• Short stature
• Unusual facial features, such as widely spaced eyes, low-set ears, and a small jaw
• Congenital heart defects
• Learning difficulties and delayed development
• Undescended testicles in males
• Bleeding problems

It is important to note that not all individuals with Noonan Syndrome Type 1 will experience all of these symptoms, and some may have additional symptoms not listed here.

Diagnosis of Noonan Syndrome Type 1

Noonan Syndrome Type 1 is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect Noonan Syndrome Type 1 based on a physical exam and medical history. Genetic testing can then confirm the diagnosis by detecting mutations in the PTPN11 gene.

NGS (Next-Generation Sequencing) Genetic DNA Test is a highly accurate and reliable method of genetic testing for Noonan Syndrome Type 1. It is a type of DNA sequencing technology that enables the simultaneous analysis of multiple genes, including the PTPN11 gene. This test can detect mutations in the PTPN11 gene with a high degree of accuracy, making it an essential tool for accurate diagnosis and treatment.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA Test for Noonan Syndrome Type 1 in India is approximately INR 20,000. However, the cost may vary depending on the specific laboratory or testing facility and the type of genetic test performed. It is important to consult with a genetic counselor or healthcare provider to determine the appropriate genetic testing strategy for each individual case.

Conclusion

Noonan Syndrome Type 1 is a genetic disorder that can cause a wide range of symptoms affecting various parts of the body. Accurate diagnosis and genetic testing are essential for proper management and treatment of this condition. NGS Genetic DNA Test is a highly accurate and reliable method of genetic testing for Noonan Syndrome Type 1, with a cost of approximately INR 20,000 in India. If you suspect that you or a loved one may have Noonan Syndrome Type 1, it is important to consult with a healthcare provider or genetic counselor for proper diagnosis and management.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA Test for Noonan Syndrome Type 1. Our team of experienced and qualified genetic counselors and laboratory technicians are dedicated to providing accurate and reliable genetic testing services to our clients. Contact us today to learn more about our genetic testing services and how we can help you manage your genetic health.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PTPN11 Gene Noonan syndrome type 1 NGS Genetic DNA Test