Short Description

NGS genetic DNA test detecets for variant and mutation detection in NSD1 gene for Sotos syndrome type 1

PreTest Information

Clinical History of Patient who is going for NSD1 Gene Sotos syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NSD1 Gene Sotos syndrome type 1 NGS Genetic DNA Test gene NSD1

Detail Description

NSD1 Gene and Sotos Syndrome Type 1: Symptoms, Diagnosis, and Genetic Testing Cost in India

Sotos syndrome is a rare genetic disorder that affects physical and cognitive development. It is caused by a mutation in the NSD1 gene, which provides instructions for making a protein that is involved in the regulation of cell growth and division.

Symptoms of Sotos syndrome can vary widely, but typically include:

• Overgrowth, particularly in early childhood
• Developmental delays and intellectual disability
• Speech and language delays
• Behavioral problems, such as hyperactivity and aggression
• Facial features that may include a large head, prominent forehead, and narrow jaw

Diagnosis of Sotos syndrome typically involves a physical exam, medical history, and genetic testing. The NSD1 gene can be analyzed using next-generation sequencing (NGS) technology, which provides highly accurate results and can detect mutations in multiple genes simultaneously.

The cost of NGS genetic testing for NSD1 mutations in India is typically around INR 20,000. However, it is important to note that the cost may vary depending on the specific testing laboratory and any additional services or consultation fees that may be included.

In addition to genetic testing, other diagnostic tests may be performed to evaluate specific symptoms and complications associated with Sotos syndrome. These may include:

• Brain imaging to evaluate for structural abnormalities
• Hormone testing to evaluate for growth hormone deficiency
• Speech and language evaluations
• Behavioral assessments

Early diagnosis and intervention are important for individuals with Sotos syndrome, as it can help improve outcomes and quality of life. Treatment may involve a combination of therapies, including:

• Speech and language therapy
• Occupational therapy
• Behavioral therapy
• Medications for specific symptoms, such as ADHD
• Surgical interventions for certain physical complications, such as scoliosis

Overall, Sotos syndrome and NSD1 gene mutations are rare but important conditions to be aware of for individuals and families affected by developmental delays and intellectual disabilities. Genetic testing can play a crucial role in diagnosis and treatment, and it is important to work with a qualified healthcare provider to access appropriate testing and care.