Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAI1 gene for Smith-Magenis syndrome

PreTest Information

Clinical History of Patient who is going for RAI1 Gene Smith-Magenis syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RAI1 Gene Smith-Magenis syndrome

Detail Description

RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by the deletion or mutation of the RAI1 gene. This gene is responsible for the regulation of several genes that are important for the normal development and functioning of the body.

Individuals with SMS usually have a distinct facial appearance, behavioral and sleep disorders, developmental delays, and intellectual disabilities. They also have a high risk of obesity and other medical conditions such as ear infections and respiratory infections.

Symptoms of Smith-Magenis Syndrome

The symptoms of Smith-Magenis syndrome can vary from person to person, but some common signs and symptoms include:

• Distinct facial features such as a broad forehead, deep-set eyes, a short nose, and a wide mouth.
• Behavioral problems such as aggression, self-injury, and temper tantrums.
• Sleep disturbances such as insomnia, sleep apnea, and abnormal sleep patterns.
• Developmental delays such as delayed speech and language, delayed motor skills, and intellectual disabilities.
• Recurrent ear infections and respiratory infections.
• High risk of obesity and diabetes.

Diagnosis of Smith-Magenis Syndrome

Smith-Magenis syndrome can be diagnosed through a genetic test called Next Generation Sequencing (NGS). This test analyzes the DNA sequence of the RAI1 gene to detect any abnormalities or mutations.

The NGS genetic DNA test for Smith-Magenis syndrome is available in India at DNA Labs India. The cost of the test is INR 20,000.

If a genetic mutation is detected, a diagnosis of Smith-Magenis syndrome can be made. It is important to note that genetic testing is not always necessary for a diagnosis, as the symptoms of SMS can also be identified through a clinical evaluation by a healthcare professional.

Conclusion

Smith-Magenis syndrome is a rare genetic disorder that can cause a range of symptoms including distinctive facial features, behavioral problems, sleep disturbances, developmental delays, and a high risk of obesity and other medical conditions. The diagnosis of SMS can be made through a genetic test such as NGS, which is available at DNA Labs India for INR 20,000.

It is important for individuals with SMS to receive early intervention and support from healthcare professionals to manage their symptoms and improve their quality of life.

If you suspect that you or a loved one may have Smith-Magenis syndrome, it is recommended to consult with a genetic counselor or healthcare professional for further evaluation and testing.

For more information about genetic testing and DNA analysis services, contact DNA Labs India today.

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 RAI1 Gene Smith-Magenis syndrome NGS Genetic DNA Test