Symptoms and Testing information for GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test

Symptoms and Testing information for GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test

At DNA Labs UAE, we specialize in a wide array of genetic testing services designed to provide insights into various genetic conditions. One such condition is the Lethal Congenital Contracture Syndrome Type 1 (LCCS1), which is caused by mutations in the GLE1 gene. Understanding the symptoms of this condition is crucial for early diagnosis and management. Through our GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test, we offer families the opportunity to gain valuable information about this genetic disorder. The cost of the test is 4400 AED, which is a critical investment in your family’s health and well-being.

Symptoms of GLE1 Gene Lethal Congenital Contracture Syndrome Type 1

Lethal Congenital Contracture Syndrome Type 1 (LCCS1) is a severe genetic disorder that primarily affects the neuromuscular system. The condition is characterized by multiple congenital contractures, which are limitations in the range of motion of various joints in the body present at birth. These symptoms are indicative of the syndrome:

  • Reduced fetal movement: Expectant mothers may notice a decrease in fetal movements during pregnancy.
  • Multiple joint contractures: These include fixed joints in the hands, feet, knees, and elbows, which are often noticeable at birth.
  • Respiratory difficulties: Infants with LCCS1 may experience severe respiratory problems due to underdeveloped lungs and weak respiratory muscles.
  • Facial anomalies: Distinct facial features such as a small jaw (micrognathia), cleft palate, and low-set ears may be present.
  • Neuromuscular symptoms: Weak muscle tone (hypotonia) and the absence of reflexes due to nerve involvement.

It is important to note that LCCS1 is typically diagnosed through genetic testing, as the symptoms can overlap with other neuromuscular disorders. The GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test offered by DNA Labs UAE is specifically designed to identify mutations in the GLE1 gene, providing a definitive diagnosis for affected families.

Understanding the Importance of Genetic Testing

Genetic testing plays a pivotal role in the diagnosis and management of rare genetic disorders like LCCS1. By identifying the specific mutation causing the condition, families can gain insights into the prognosis, potential treatment options, and the risk of recurrence in future pregnancies. Furthermore, a definitive genetic diagnosis can facilitate access to supportive therapies and interventions that can improve the quality of life for affected individuals.

Why Choose DNA Labs UAE for Your Genetic Testing Needs?

DNA Labs UAE is at the forefront of genetic testing services in the region. Our state-of-the-art laboratory is equipped with the latest technology to provide accurate and reliable genetic testing results. The GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test is conducted by a team of expert geneticists and technicians who are dedicated to providing the highest standard of care. At a cost of 4400 AED, we offer a comprehensive testing service that includes pre-test counseling, the genetic test itself, and post-test support to help families understand and manage the condition effectively.

For more information about the GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 Genetic Test and other services we offer, please visit our website at https://dnalabsuae.com. Our team is here to support you every step of the way, from initial inquiry to the delivery of your test results and beyond.

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