Short Description

NGS genetic DNA test detecets for variant and mutation detection in RIT1 gene for Noonan syndrome type 8

PreTest Information

Clinical History of Patient who is going for RIT1 Gene Noonan syndrome type 8 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RIT1 Gene Noonan syndrome type 8 NGS Genetic DNA Test gene RIT1

Detail Description

RIT1 Gene Noonan Syndrome Type 8 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis | DNA Labs India

Noonan syndrome is a genetic disorder that affects many areas of the body, including growth, cognitive function, and facial features. There are several types of Noonan syndrome, each caused by mutations in different genes. One of these genes is RIT1, which is associated with Noonan syndrome type 8.

What is RIT1 Gene?

The RIT1 gene provides instructions for making a protein that is involved in cell signaling. This protein helps to control the growth and division of cells, among other functions. When mutations occur in the RIT1 gene, the protein may not function properly, leading to the symptoms of Noonan syndrome type 8.

Noonan Syndrome Type 8 Symptoms

Some of the common symptoms of Noonan syndrome type 8 include:

• Short stature
• Distinct facial features, such as widely spaced eyes and a small jaw
• Heart defects
• Learning difficulties
• Delayed speech and language development
• Increased risk of developing certain cancers

Noonan Syndrome Type 8 Diagnosis

Diagnosis of Noonan syndrome type 8 typically involves a physical examination, including evaluation of facial features, heart function, and growth parameters. Genetic testing is also used to confirm the diagnosis and identify the underlying genetic mutation. DNA Labs India offers NGS genetic DNA testing for Noonan syndrome type 8 at a cost of INR 20000.

Conclusion

Noonan syndrome type 8 is a genetic disorder caused by mutations in the RIT1 gene. Symptoms include short stature, heart defects, and learning difficulties, among others. Diagnosis involves a physical exam and genetic testing. DNA Labs India offers NGS genetic DNA testing for Noonan syndrome type 8 at a cost of INR 20000. If you suspect that you or a loved one may have Noonan syndrome type 8, it is important to speak with a healthcare provider and consider genetic testing.

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 RIT1 Gene Noonan syndrome type 8 NGS Genetic DNA Test