Short Description

NGS genetic DNA test detecets for variant and mutation detection in chr. 15q11 gene for Prader-Willi syndrome

PreTest Information

Clinical History of Patient who is going for chr. 15q11 Gene Prader-Willi syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with chr. 15q11 Gene Prader-Willi syndrome

Detail Description

Understanding Prader-Willi Syndrome with DNA Labs India

Prader-Willi Syndrome (PWS) is a rare genetic disorder that affects one in every 10,000 to 25,000 individuals. It is caused by the loss of function of genes on chromosome 15q11, which are responsible for the production of certain proteins in the brain. This disorder is characterized by a range of physical, cognitive, and behavioral symptoms, which can vary in severity from person to person.

At DNA Labs India, we offer cutting-edge Next Generation Sequencing (NGS) Genetic DNA testing to diagnose PWS and other genetic disorders. Our state-of-the-art testing technology delivers accurate and reliable results, helping doctors and genetic counselors to provide the best possible care for their patients.

Understanding the Genetics of PWS

PWS is caused by the loss of function of specific genes on chromosome 15q11. This chromosome has two copies, one inherited from each parent. In most cases of PWS, the genes on the paternal copy of chromosome 15 are missing or not functioning properly.

The specific genes involved in PWS are responsible for the production of certain proteins that play a critical role in brain development and function. When these proteins are not produced, it can lead to the physical, cognitive, and behavioral symptoms associated with PWS.

Symptoms of PWS

The symptoms of PWS can vary widely, even among individuals with the same genetic mutation. Some common symptoms include:

• Low muscle tone and poor growth in infancy
• Excessive hunger and overeating, leading to obesity
• Cognitive and developmental delays
• Short stature and small hands and feet
• Sleep disorders and abnormal breathing during sleep
• Behavioral problems, such as temper tantrums, stubbornness, and anxiety
• Delayed or absent puberty
• Reduced fertility in males

These symptoms can be mild or severe, depending on the individual. However, the excessive hunger and overeating that are characteristic of PWS can lead to life-threatening complications, such as obesity-related heart disease, diabetes, and respiratory problems.

Diagnosing PWS with NGS Genetic DNA Testing

Diagnosing PWS can be challenging, as the symptoms can be similar to those of other genetic disorders. However, with the help of advanced genetic testing technologies, such as NGS Genetic DNA Testing, doctors and genetic counselors can accurately diagnose PWS and develop appropriate treatment plans.

At DNA Labs India, we offer state-of-the-art NGS Genetic DNA Testing for PWS and other genetic disorders. Our testing process involves sequencing the patient's DNA to identify any mutations or variations that may be causing their symptoms.

Our NGS Genetic DNA Test for PWS costs INR 20,000 and delivers accurate and reliable results within a few weeks. Our team of genetic counselors and doctors can help interpret the results and provide guidance on treatment options.

Conclusion

Prader-Willi Syndrome is a rare genetic disorder that can cause a range of physical, cognitive, and behavioral symptoms. However, with the help of advanced genetic testing technologies, such as NGS Genetic DNA Testing, doctors and genetic counselors can accurately diagnose PWS and develop appropriate treatment plans. At DNA Labs India, we are committed to providing cutting-edge genetic testing services to help individuals and families affected by genetic disorders.

To learn more about our NGS Genetic DNA Testing for PWS and other genetic disorders, please contact us today.