Short Description

NGS genetic DNA test detecets for variant and mutation detection in DIS3L2 gene for Perlman Syndrome

PreTest Information

Clinical History of Patient who is going for DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DIS3L2 Gene Perlman Syndrome NGS Genetic DNA Test gene DIS3L2

Detail Description

DIS3L2 Gene and Perlman Syndrome: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Perlman Syndrome is a rare genetic disorder that affects the development and growth of various organs in the body. It is caused by mutations in the DIS3L2 gene, which is responsible for the production of a protein that plays a crucial role in regulating cell growth and division. The DIS3L2 gene is located on chromosome 2 and is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene to develop Perlman Syndrome.

Symptoms of Perlman Syndrome

Perlman Syndrome is characterized by a range of symptoms that can vary widely between individuals. Some of the most common symptoms of Perlman Syndrome include:

• Abnormal growth and development of the organs, including the liver, kidneys, and pancreas.
• Low muscle tone and poor muscle development.
• Intellectual disability and delayed development.
• Large birth weight and size.
• Distinctive facial features, including a small head, low-set ears, and widely spaced eyes.

Perlman Syndrome is typically diagnosed in infancy or early childhood, but the severity of the symptoms can vary widely. Some individuals with Perlman Syndrome may have only mild symptoms, while others may experience severe developmental delays and require ongoing medical care.

Diagnosing Perlman Syndrome

Perlman Syndrome is typically diagnosed through a combination of physical exams, medical imaging tests, and genetic testing. Physicians may perform an ultrasound or MRI to examine the organs and tissues for abnormalities, as well as blood tests to check for elevated levels of certain hormones and proteins. Genetic testing is also essential in confirming a diagnosis of Perlman Syndrome.

NGS (Next-Generation Sequencing) Genetic DNA Test is a powerful tool for identifying genetic mutations that cause Perlman Syndrome. This test allows physicians to sequence the entire DIS3L2 gene and identify any mutations that may be present. NGS testing is highly accurate and can provide a definitive diagnosis of Perlman Syndrome in a matter of weeks.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA Test for Perlman Syndrome in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or clinic where the test is performed, as well as any additional medical fees or consultations that may be required.

Conclusion

Perlman Syndrome is a rare genetic disorder that can have a significant impact on an individual's health and development. Understanding the symptoms of Perlman Syndrome, as well as the diagnostic tools and testing options available, can help individuals and their families make informed decisions about their medical care. NGS Genetic DNA Test is a powerful tool for identifying the genetic mutations that cause Perlman Syndrome, and its cost in India is affordable and accessible for individuals who require this testing.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA Test for Perlman Syndrome. Our experienced team of genetic counselors and technicians can provide you with the support and guidance you need to make informed decisions about your medical care. Contact us today to learn more about our services and how we can help you.