Warburg Micro Syndrome (WMS) is a rare genetic disorder characterized by a wide range of physical and developmental abnormalities. One of the genes associated with this condition is RAB3GAP1, and mutations in this gene lead to Warburg Micro Syndrome Type 1. At DNA Labs UAE, we offer a comprehensive genetic test for individuals suspected of having this condition. The cost of the test is 4400 AED.
Warburg Micro Syndrome manifests through various symptoms, affecting multiple systems in the body. The symptoms are often present from birth or early infancy, and they include microcephaly (a significantly smaller head than expected), microphthalmia (abnormally small eyes), or anophthalmia (absence of one or both eyes). These ocular abnormalities are often accompanied by cataracts, leading to vision impairment or blindness. Additionally, affected individuals may exhibit hypotonia (reduced muscle tone), which can delay motor skills development such as sitting and walking.
Intellectual disability is another hallmark of Warburg Micro Syndrome, ranging from mild to severe. Speech development is particularly affected, with many individuals being non-verbal. Seizures are also a common symptom, further complicating the clinical picture.
Endocrine issues, such as growth hormone deficiency leading to short stature, and genital abnormalities in males, including small penis and undescended testicles, are also associated with this syndrome. Furthermore, some individuals may exhibit spasticity, particularly in the lower limbs, and have a distinctive facial appearance, including a broad nasal tip and wide mouth.
Given the complexity and variability of the syndrome, genetic testing plays a crucial role in the diagnosis of Warburg Micro Syndrome Type 1. The RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test offered by DNA Labs UAE is designed to identify mutations in the RAB3GAP1 gene, providing a definitive diagnosis for affected individuals and their families. This is especially important for genetic counseling and understanding the risk of recurrence in future pregnancies.
The process of testing involves collecting a DNA sample, typically through a blood draw or a cheek swab. The sample is then analyzed in our state-of-the-art laboratory, where our team of genetic experts looks for mutations in the RAB3GAP1 gene. The results are usually available within a few weeks and are provided in a comprehensive report that includes a detailed explanation of the findings and their implications.
At DNA Labs UAE, we understand the emotional and logistical challenges that come with seeking a genetic diagnosis. Our team is committed to providing support and guidance throughout the testing process, ensuring that families receive the information and assistance they need. With the cost of the test set at 4400 AED, we strive to make genetic testing accessible to those who need it, helping to pave the way for better management and care for individuals with Warburg Micro Syndrome Type 1.
In conclusion, Warburg Micro Syndrome Type 1 is a complex condition that requires a comprehensive approach to diagnosis and management. The RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test offered by DNA Labs UAE is a crucial tool in this process, providing accurate and timely information that can significantly impact the lives of affected individuals and their families.
Introduction
Warburg Micro Syndrome (WMS) is a rare genetic disorder characterized by a wide range of physical and developmental abnormalities. One of the genes associated with this condition is RAB3GAP1, and mutations in this gene lead to Warburg Micro Syndrome Type 1. At DNA Labs UAE, we offer a comprehensive genetic test for individuals suspected of having this condition. The cost of the test is 4400 AED.
Symptoms of Warburg Micro Syndrome Type 1
Warburg Micro Syndrome manifests through various symptoms, affecting multiple systems in the body. The symptoms are often present from birth or early infancy, and they include microcephaly (a significantly smaller head than expected), microphthalmia (abnormally small eyes), or anophthalmia (absence of one or both eyes). These ocular abnormalities are often accompanied by cataracts, leading to vision impairment or blindness. Additionally, affected individuals may exhibit hypotonia (reduced muscle tone), which can delay motor skills development such as sitting and walking.
Intellectual disability is another hallmark of Warburg Micro Syndrome, ranging from mild to severe. Speech development is particularly affected, with many individuals being non-verbal. Seizures are also a common symptom, further complicating the clinical picture.
Endocrine issues, such as growth hormone deficiency leading to short stature, and genital abnormalities in males, including small penis and undescended testicles, are also associated with this syndrome. Furthermore, some individuals may exhibit spasticity, particularly in the lower limbs, and have a distinctive facial appearance, including a broad nasal tip and wide mouth.
Importance of Genetic Testing
Given the complexity and variability of the syndrome, genetic testing plays a crucial role in the diagnosis of Warburg Micro Syndrome Type 1. The RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test offered by DNA Labs UAE is designed to identify mutations in the RAB3GAP1 gene, providing a definitive diagnosis for affected individuals and their families. This is especially important for genetic counseling and understanding the risk of recurrence in future pregnancies.
The process of testing involves collecting a DNA sample, typically through a blood draw or a cheek swab. The sample is then analyzed in our state-of-the-art laboratory, where our team of genetic experts looks for mutations in the RAB3GAP1 gene. The results are usually available within a few weeks and are provided in a comprehensive report that includes a detailed explanation of the findings and their implications.
Our Commitment
At DNA Labs UAE, we understand the emotional and logistical challenges that come with seeking a genetic diagnosis. Our team is committed to providing support and guidance throughout the testing process, ensuring that families receive the information and assistance they need. With the cost of the test set at 4400 AED, we strive to make genetic testing accessible to those who need it, helping to pave the way for better management and care for individuals with Warburg Micro Syndrome Type 1.
Conclusion
In conclusion, Warburg Micro Syndrome Type 1 is a complex condition that requires a comprehensive approach to diagnosis and management. The RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test offered by DNA Labs UAE is a crucial tool in this process, providing accurate and timely information that can significantly impact the lives of affected individuals and their families.
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