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Hyperphosphatasia with mental retardation syndrome type 4 (HPMRS4), also known as PGAP3 deficiency, is a rare genetic condition that affects various parts of the body, including the brain. This disorder is part of a group of diseases known as glycosylphosphatidylinositol (GPI) biosynthesis defects, which are characterized by intellectual disability, seizures, and skeletal abnormalities due to improper cell surface anchoring of proteins.
Symptoms of PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4
The symptoms of HPMRS4 can vary widely among affected individuals but generally include severe intellectual disability, delayed speech and motor skills, hypotonia (low muscle tone), and distinct facial features such as a broad nasal bridge and wide-set eyes. Seizures are also common in individuals with this condition. Additionally, many affected individuals have skeletal abnormalities including scoliosis (curvature of the spine) and foot deformities. One of the hallmark features of this syndrome is elevated levels of alkaline phosphatase in the blood, which is where the term “hyperphosphatasia” comes from.
Importance of Genetic Testing for PGAP3 Gene
Genetic testing for the PGAP3 gene is crucial for the accurate diagnosis of HPMRS4. This test can confirm the presence of mutations in the PGAP3 gene that are responsible for the condition. Early diagnosis is essential for the management of symptoms and to provide appropriate educational and medical interventions. Furthermore, genetic testing can offer information for family planning to those who have a family history of the disorder.
PGAP3 Gene Hyperphosphatasia with Mental Retardation Syndrome Type 4 Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer a comprehensive genetic test for HPMRS4, aimed at detecting mutations in the PGAP3 gene. Our state-of-the-art laboratory is equipped with advanced technology to ensure accurate and reliable results. The test involves a simple blood sample from the patient, and our team of experts follows a meticulous procedure to analyze the genetic material for any signs of the disorder.
The cost of the PGAP3 gene hyperphosphatasia with mental retardation syndrome type 4 genetic test at DNA Labs UAE is 4400 AED. This investment covers the full spectrum of testing and analysis, providing you with a detailed report of the findings. Our team is also available for consultations to discuss the results and recommend further steps if a mutation is detected.
Why Choose DNA Labs UAE for Your Genetic Testing Needs?
Choosing DNA Labs UAE for your genetic testing needs means opting for accuracy, reliability, and support. Our laboratory is accredited and recognized for its high standards in genetic testing. We are committed to providing confidential and compassionate care to all our clients. Furthermore, our team of genetic counselors is available to guide you through the process, helping you understand the results and their implications for your health and your family.
For more information about the PGAP3 gene hyperphosphatasia with mental retardation syndrome type 4 genetic test and to schedule your appointment, please visit our website:
Understanding your genetic health is crucial for managing and planning for a healthy future. At DNA Labs UAE, we are dedicated to providing you with the most comprehensive and accurate genetic testing services available. Contact us today to learn more about how we can assist you in your journey towards better health and well-being.
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This formatted article provides a detailed overview of the symptoms, importance of genetic testing, and specifics of the PGAP3 gene test available at DNA Labs UAE, including the cost and how to access the service.
