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Hypotonia-Cystinuria Syndrome, caused by mutations in the PREPL gene, is a rare genetic condition that affects various body systems. This syndrome is characterized by muscle weakness (hypotonia), reduced muscle mass, growth hormone deficiency, and cystinuria, a condition where high levels of cystine are excreted in the urine, potentially leading to kidney stones. Understanding the symptoms and getting an accurate diagnosis through genetic testing can be crucial for managing the condition effectively.
The PREPL gene plays a significant role in the proper functioning of muscles and the nervous system. Mutations in this gene can disrupt normal development and function, leading to the symptoms associated with Hypotonia-Cystinuria Syndrome. Recognizing these symptoms early can help in seeking appropriate medical interventions and support.
Symptoms of Hypotonia-Cystinuria Syndrome include:
– Muscle weakness and reduced muscle tone (hypotonia) from birth
– Difficulty feeding in infancy due to weak muscle tone
– Delayed development of motor skills such as sitting, standing, and walking
– Growth hormone deficiency leading to short stature
– Cystinuria, leading to the formation of cystine kidney stones
It’s important to note that symptoms can vary from person to person. Some individuals may experience mild symptoms, while others may have more severe manifestations of the syndrome.
For families with a history of Hypotonia-Cystinuria Syndrome or for individuals showing symptoms, genetic testing for the PREPL gene mutations can provide a definitive diagnosis. DNA Labs UAE offers a comprehensive PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test. This test analyzes the PREPL gene for mutations known to cause the syndrome, offering a reliable diagnosis for affected individuals or carriers.
The cost of the PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test is 4400 AED. The test is a crucial step in confirming the diagnosis, which can then guide treatment and management strategies tailored to the individual’s specific needs.
In conclusion, recognizing the symptoms of Hypotonia-Cystinuria Syndrome and opting for genetic testing can significantly impact the management of the condition. DNA Labs UAE is committed to providing accurate and reliable genetic testing services to help individuals and families understand their genetic health.
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Hypotonia-Cystinuria Syndrome, caused by mutations in the PREPL gene, is a rare genetic condition that affects various body systems. This syndrome is characterized by muscle weakness (hypotonia), reduced muscle mass, growth hormone deficiency, and cystinuria, a condition where high levels of cystine are excreted in the urine, potentially leading to kidney stones. Understanding the symptoms and getting an accurate diagnosis through genetic testing can be crucial for managing the condition effectively.
The PREPL gene plays a significant role in the proper functioning of muscles and the nervous system. Mutations in this gene can disrupt normal development and function, leading to the symptoms associated with Hypotonia-Cystinuria Syndrome. Recognizing these symptoms early can help in seeking appropriate medical interventions and support.
Symptoms of Hypotonia-Cystinuria Syndrome include:
- Muscle weakness and reduced muscle tone (hypotonia) from birth
- Difficulty feeding in infancy due to weak muscle tone
- Delayed development of motor skills such as sitting, standing, and walking
- Growth hormone deficiency leading to short stature
- Cystinuria, leading to the formation of cystine kidney stones
It’s important to note that symptoms can vary from person to person. Some individuals may experience mild symptoms, while others may have more severe manifestations of the syndrome.
For families with a history of Hypotonia-Cystinuria Syndrome or for individuals showing symptoms, genetic testing for the PREPL gene mutations can provide a definitive diagnosis. DNA Labs UAE offers a comprehensive PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test. This test analyzes the PREPL gene for mutations known to cause the syndrome, offering a reliable diagnosis for affected individuals or carriers.
The cost of the PREPL Gene Hypotonia-Cystinuria Syndrome Genetic Test is 4400 AED. The test is a crucial step in confirming the diagnosis, which can then guide treatment and management strategies tailored to the individual’s specific needs.
In conclusion, recognizing the symptoms of Hypotonia-Cystinuria Syndrome and opting for genetic testing can significantly impact the management of the condition. DNA Labs UAE is committed to providing accurate and reliable genetic testing services to help individuals and families understand their genetic health.
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