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Vohwinkel Syndrome with Ichthyosis is a rare genetic disorder caused by mutations in the LORICRIN gene. This condition is characterized by a unique set of symptoms that significantly impact the skin’s appearance and function. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a crucial tool for accurate diagnosis and management.
Symptoms of LORICRIN Gene Vohwinkel Syndrome with Ichthyosis
Vohwinkel Syndrome with Ichthyosis presents with a variety of symptoms, primarily affecting the skin. Key symptoms include:
- Ichthyosis: A condition characterized by dry, scaly skin.
- Keratoderma: Thickening of the skin on the palms of the hands and soles of the feet.
- Starfish-shaped keratoses on the knuckles.
- Constricting bands on the fingers and toes, which may lead to autoamputation in severe cases.
- Hearing loss, which can be progressive and affects the quality of life.
These symptoms can lead to significant discomfort and may impact daily activities and overall quality of life. Early diagnosis and intervention are crucial for managing the condition effectively.
Genetic Test for LORICRIN Gene Vohwinkel Syndrome with Ichthyosis
DNA Labs UAE offers a specialized genetic test for diagnosing Vohwinkel Syndrome with Ichthyosis. This test specifically looks for mutations in the LORICRIN gene, which are responsible for the condition. By identifying these mutations, healthcare providers can confirm the diagnosis, enabling them to tailor treatment and management strategies to the individual’s needs.
The genetic test involves a simple and non-invasive procedure, typically requiring only a blood sample or cheek swab from the patient. The sample is then analyzed in our state-of-the-art laboratory, where our team of experts uses advanced genetic sequencing techniques to identify any mutations in the LORICRIN gene.
The cost of the genetic test for Vohwinkel Syndrome with Ichthyosis at DNA Labs UAE is 4400 AED. This investment includes the test itself, a comprehensive report of the findings, and a consultation with a genetic counselor who can explain the results and discuss the next steps.
For more information or to schedule a test, please visit our website at DNA Labs UAE.
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Symptoms of LORICRIN Gene Vohwinkel Syndrome with Ichthyosis
Vohwinkel Syndrome with Ichthyosis presents with a variety of symptoms, primarily affecting the skin. Key symptoms include:
- Ichthyosis: A condition characterized by dry, scaly skin.
- Keratoderma: Thickening of the skin on the palms of the hands and soles of the feet.
- Starfish-shaped keratoses on the knuckles.
- Constricting bands on the fingers and toes, which may lead to autoamputation in severe cases.
- Hearing loss, which can be progressive and affects the quality of life.
These symptoms can lead to significant discomfort and may impact daily activities and overall quality of life. Early diagnosis and intervention are crucial for managing the condition effectively.
Genetic Test for LORICRIN Gene Vohwinkel Syndrome with Ichthyosis
DNA Labs UAE offers a specialized genetic test for diagnosing Vohwinkel Syndrome with Ichthyosis. This test specifically looks for mutations in the LORICRIN gene, which are responsible for the condition. By identifying these mutations, healthcare providers can confirm the diagnosis, enabling them to tailor treatment and management strategies to the individual’s needs.
The genetic test involves a simple and non-invasive procedure, typically requiring only a blood sample or cheek swab from the patient. The sample is then analyzed in our state-of-the-art laboratory, where our team of experts uses advanced genetic sequencing techniques to identify any mutations in the LORICRIN gene.
The cost of the genetic test for Vohwinkel Syndrome with Ichthyosis at DNA Labs UAE is 4400 AED. This investment includes the test itself, a comprehensive report of the findings, and a consultation with a genetic counselor who can explain the results and discuss the next steps.
For more information or to schedule a test, please visit our website at DNA Labs UAE.
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