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Understanding the symptoms of CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type is crucial for early diagnosis and management. This rare genetic disorder, characterized by the presence of multiple pterygia (webs of skin) across various parts of the body, can lead to severe developmental issues and, in many cases, is lethal. The genetic test for this syndrome, offered by DNA Labs UAE, is a critical step towards diagnosis and understanding the implications for affected families.
Symptoms of CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type
The symptoms of CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type can vary widely among affected individuals but generally include the following:
- Multiple pterygia (webs of skin) across different parts of the body, such as the neck, armpits, elbows, knees, and ankles.
- Fetal hydrops (excess fluid accumulation in the fetus).
- Craniofacial anomalies, including a high forehead, cleft palate, and cystic hygroma (a fluid-filled sac resulting from a blockage in the lymphatic system).
- Growth retardation, both prenatally and postnatally.
- Joint anomalies, which may include contractures (permanent tightening of the muscles, tendons, skin, and nearby tissues), leading to restricted movement.
- Respiratory difficulties, often severe and life-threatening.
Early diagnosis through genetic testing is vital for managing the symptoms and providing appropriate care and support. DNA Labs UAE offers a comprehensive genetic test for CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type, priced at 4400 AED.
Genetic Test for CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type
The genetic test provided by DNA Labs UAE is a sophisticated diagnostic tool designed to detect mutations in the CHRNA1 gene, which are responsible for the development of Multiple Pterygium Syndrome Lethal Type. This test is essential for confirming the diagnosis, especially in cases where the clinical symptoms may suggest the condition.
Understanding the genetic basis of this syndrome is also crucial for genetic counseling. Families affected by or at risk of this condition can benefit from the insights provided by the test, helping them make informed decisions about future pregnancies and the management of the condition.
The test is priced at 4400 AED and can be accessed through DNA Labs UAE’s website. For more information and to schedule a test, please visit DNA Labs UAE.
Early intervention and supportive care are key in managing the symptoms associated with CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type. With the help of advanced genetic testing, families can gain a clearer understanding of their situation and navigate the challenges posed by this rare condition more effectively.
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Symptoms of CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type
The symptoms of CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type can vary widely among affected individuals but generally include the following:
- Multiple pterygia (webs of skin) across different parts of the body, such as the neck, armpits, elbows, knees, and ankles.
- Fetal hydrops (excess fluid accumulation in the fetus).
- Craniofacial anomalies, including a high forehead, cleft palate, and cystic hygroma (a fluid-filled sac resulting from a blockage in the lymphatic system).
- Growth retardation, both prenatally and postnatally.
- Joint anomalies, which may include contractures (permanent tightening of the muscles, tendons, skin, and nearby tissues), leading to restricted movement.
- Respiratory difficulties, often severe and life-threatening.
Early diagnosis through genetic testing is vital for managing the symptoms and providing appropriate care and support. DNA Labs UAE offers a comprehensive genetic test for CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type, priced at 4400 AED.
Genetic Test for CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type
The genetic test provided by DNA Labs UAE is a sophisticated diagnostic tool designed to detect mutations in the CHRNA1 gene, which are responsible for the development of Multiple Pterygium Syndrome Lethal Type. This test is essential for confirming the diagnosis, especially in cases where the clinical symptoms may suggest the condition.
Understanding the genetic basis of this syndrome is also crucial for genetic counseling. Families affected by or at risk of this condition can benefit from the insights provided by the test, helping them make informed decisions about future pregnancies and the management of the condition.
The test is priced at 4400 AED and can be accessed through DNA Labs UAE’s website. For more information and to schedule a test, please visit DNA Labs UAE.
Early intervention and supportive care are key in managing the symptoms associated with CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type. With the help of advanced genetic testing, families can gain a clearer understanding of their situation and navigate the challenges posed by this rare condition more effectively.
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