Symptoms and Testing information for HPRT1 Gene Lesch-Nyham syndrome Genetic Test

Symptoms and Testing information for HPRT1 Gene Lesch-Nyham syndrome Genetic Test

Lesch-Nyhan Syndrome (LNS) is a rare genetic disorder that affects the body’s ability to metabolize purines, which are found in various foods and are also produced by the body. The condition is caused by mutations in the HPRT1 gene and is inherited in an X-linked recessive pattern, meaning it predominantly affects males. The symptoms of LNS can be severe and impact many areas of health and development. Recognizing these symptoms early can lead to timely genetic testing and management of the condition. DNA Labs UAE offers a comprehensive genetic test for the HPRT1 gene mutation, crucial for diagnosing Lesch-Nyhan Syndrome.

Symptoms of Lesch-Nyhan Syndrome

Lesch-Nyhan Syndrome presents a range of symptoms that vary in severity among individuals. The most common symptoms include overproduction of uric acid, leading to kidney and bladder stones, poor muscle control, and moderate to severe intellectual disability. However, the hallmark symptom that distinguishes LNS from other disorders is self-mutilating behaviors, such as lip and finger biting, which typically begin in the first few years of life.

  • Neurological problems, including involuntary muscle movements, muscle weakness, and seizures
  • Behavioral issues, such as aggression, self-harm, and irritability
  • Developmental delays, particularly in motor skills and speech
  • Gout-like symptoms due to high uric acid levels, causing painful swelling in joints
  • Kidney problems, including the formation of uric acid stones
  • Difficulty swallowing and speaking

It’s important to note that not all individuals with LNS will experience all these symptoms, and the severity can vary widely.

HPRT1 Gene Lesch-Nyham Syndrome Genetic Test

DNA Labs UAE provides a genetic test specifically designed to detect mutations in the HPRT1 gene associated with Lesch-Nyhan Syndrome. This test is crucial for confirming the diagnosis, especially in cases where the clinical symptoms are present. Early diagnosis through genetic testing can help manage the symptoms and improve the quality of life for those affected by LNS.

The test is conducted using a sample of the patient’s blood, where DNA is extracted and analyzed for mutations in the HPRT1 gene. The process is comprehensive and ensures accurate results, guiding the next steps in management and treatment.

The cost of the HPRT1 Gene Lesch-Nyham Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem high, the value of an accurate diagnosis and the guidance it provides for treatment and management cannot be understated.

For more information about the HPRT1 Gene Lesch-Nyham Syndrome Genetic Test and to schedule an appointment, please visit https://dnalabsuae.com/tests/hprt1-gene-lesch-nyham-syndrome-genetic-test/.

Understanding the symptoms of Lesch-Nyhan Syndrome and the importance of genetic testing is crucial for families and individuals at risk. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the HPRT1 gene test, to help diagnose and manage this rare but impactful disorder.

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