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Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is a rare genetic condition characterized by elevated levels of alkaline phosphatase, intellectual disability, and distinct facial features. One of the genes associated with this condition is the PIGO gene, which plays a critical role in glycosylphosphatidylinositol (GPI) anchor biosynthesis. The GPI anchor is a glycolipid found on the surface of various proteins that are attached to the cell membrane. Mutations in the PIGO gene can lead to PIGO deficiency, which is implicated in HPMRS type 2. At DNA Labs UAE, we offer a comprehensive genetic test for the PIGO gene to help diagnose HPMRS type 2, providing crucial information for families and healthcare providers.
Symptoms of PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2
Individuals with HPMRS type 2 due to PIGO gene mutations typically present with a range of clinical manifestations. The most common symptoms include:
- Intellectual disability of varying degrees
- Delayed developmental milestones
- Elevated levels of alkaline phosphatase
- Distinct facial features such as a broad nasal bridge, wide-set eyes, and a thin upper lip
- Seizures, which may not be present in all cases
- Problems with vision and hearing
- Occasional abnormalities in other organs such as the heart, liver, and kidneys
It is important to note that the severity and combination of these symptoms can vary significantly among affected individuals. Early diagnosis and intervention are crucial in managing the symptoms and improving the quality of life for those with HPMRS type 2.
PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 Genetic Test
At DNA Labs UAE, we understand the importance of accurate diagnosis for rare genetic conditions like HPMRS type 2. Our genetic test for the PIGO gene mutation offers a reliable method for confirming the diagnosis, enabling targeted management strategies and genetic counseling. The test involves a simple blood sample from the patient, which is then analyzed using advanced genetic sequencing techniques to identify mutations in the PIGO gene.
The cost of the PIGO gene hyperphosphatasia with mental retardation syndrome type 2 genetic test is 4400 AED. This comprehensive test is a crucial step towards understanding the condition and providing the best possible care for affected individuals and their families.
For more information about the PIGO gene test and to schedule an appointment, please visit our website at DNA Labs UAE.
At DNA Labs UAE, we are committed to providing accurate and accessible genetic testing services. Our team of experts is here to support you through every step of the process, from initial consultation to post-test counseling. Trust us to help you unlock the answers hidden in your DNA.
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Symptoms of PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2
Individuals with HPMRS type 2 due to PIGO gene mutations typically present with a range of clinical manifestations. The most common symptoms include:
- Intellectual disability of varying degrees
- Delayed developmental milestones
- Elevated levels of alkaline phosphatase
- Distinct facial features such as a broad nasal bridge, wide-set eyes, and a thin upper lip
- Seizures, which may not be present in all cases
- Problems with vision and hearing
- Occasional abnormalities in other organs such as the heart, liver, and kidneys
It is important to note that the severity and combination of these symptoms can vary significantly among affected individuals. Early diagnosis and intervention are crucial in managing the symptoms and improving the quality of life for those with HPMRS type 2.
PIGO Gene Hyperphosphatasia with Mental Retardation Syndrome Type 2 Genetic Test
At DNA Labs UAE, we understand the importance of accurate diagnosis for rare genetic conditions like HPMRS type 2. Our genetic test for the PIGO gene mutation offers a reliable method for confirming the diagnosis, enabling targeted management strategies and genetic counseling. The test involves a simple blood sample from the patient, which is then analyzed using advanced genetic sequencing techniques to identify mutations in the PIGO gene.
The cost of the PIGO gene hyperphosphatasia with mental retardation syndrome type 2 genetic test is 4400 AED. This comprehensive test is a crucial step towards understanding the condition and providing the best possible care for affected individuals and their families.
For more information about the PIGO gene test and to schedule an appointment, please visit our website at DNA Labs UAE.
At DNA Labs UAE, we are committed to providing accurate and accessible genetic testing services. Our team of experts is here to support you through every step of the process, from initial consultation to post-test counseling. Trust us to help you unlock the answers hidden in your DNA.
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