Understanding the genetic underpinnings of various syndromes is crucial in the field of medical genetics. One such condition, Hyperphosphatasia with Mental Retardation Syndrome Type 5 (HPMRS5), also known as Mabry Syndrome, has garnered attention due to its significant impact on affected individuals. This condition is caused by mutations in the PIGW gene, which plays a critical role in the glycosylphosphatidylinositol (GPI) anchor biosynthesis, a process vital for proper cell surface localization of proteins. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a crucial tool for diagnosis and management.
Symptoms of PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5
The symptoms of HPMRS5 can vary widely among affected individuals but generally include intellectual disability, developmental delays, and elevated levels of alkaline phosphatase in the blood. Other potential symptoms include:
- Seizures, which are often resistant to treatment.
- Facial dysmorphisms, such as a wide nasal bridge, long philtrum, and thin upper lip.
- Growth delays, including both pre- and post-natal growth retardation.
- Behavioral issues, which can range from hyperactivity to autism spectrum disorders.
- Skeletal anomalies, including kyphosis or scoliosis.
- Visual and hearing impairments.
It’s important to note that the severity and combination of these symptoms can vary, making early and accurate diagnosis through genetic testing essential for effective management and treatment.
Genetic Test for PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5
DNA Labs UAE offers a specialized genetic test for diagnosing HPMRS5, targeting mutations in the PIGW gene. This test is a vital tool for clinicians and families, providing crucial information that can guide treatment decisions and support services. Early diagnosis can also help in managing symptoms and improving the quality of life for those affected.
The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of mutations in the PIGW gene. This process is highly accurate and can provide definitive answers for families seeking clarity on their child’s condition.
Cost of the Genetic Test
The cost of the PIGW gene hyperphosphatasia with mental retardation syndrome type 5 genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it’s crucial to consider the value of the information it provides. Accurate diagnosis can lead to targeted interventions, potentially reducing the overall cost of care and significantly improving the individual’s quality of life.
For more information on the test and to schedule a consultation, please visit DNA Labs UAE.
In conclusion, the PIGW gene hyperphosphatasia with mental retardation syndrome type 5 genetic test is a critical resource for families and healthcare providers. It offers hope for a better understanding of the condition, enabling more effective management and support for those affected. DNA Labs UAE is at the forefront of providing these essential services, helping to improve lives through advanced genetic testing.
