Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLE1 gene for Lethal congenital contracture syndrome type 1

PreTest Information

Clinical History of Patient who is going for GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic DNA Test gene GLE1

Detail Description

GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 NGS Genetic DNA Test

GLE1 gene lethal congenital contracture syndrome type 1 is a rare genetic disorder that affects the muscles and joints of infants. It is a severe form of arthrogryposis multiplex congenita (AMC), a condition that causes joint contractures and muscle weakness. Lethal congenital contracture syndrome type 1 is caused by mutations in the GLE1 gene, which provides instructions for making a protein that helps transport molecules within cells.

Symptoms

The main symptoms of lethal congenital contracture syndrome type 1 are joint contractures, muscle weakness, and respiratory distress. The joints of affected infants are fixed in a bent or flexed position, which makes movement difficult. Muscle weakness can affect the muscles of the face, neck, trunk, and limbs. Infants with lethal congenital contracture syndrome type 1 may also have a small head, a narrow chest, and a curved spine. Respiratory distress is a common complication of the condition, and it can be life-threatening.

Diagnosis

Lethal congenital contracture syndrome type 1 is typically diagnosed shortly after birth based on the infant's symptoms and physical exam. Genetic testing can confirm the diagnosis by identifying mutations in the GLE1 gene. NGS or next-generation sequencing is a powerful tool for genetic testing that can quickly and accurately detect mutations in multiple genes simultaneously.

Cost of NGS Genetic DNA Test

The cost of NGS genetic DNA testing for lethal congenital contracture syndrome type 1 in India is around INR 20,000. The cost may vary depending on the laboratory and the specific test ordered. Insurance may cover some or all of the cost of genetic testing, depending on the policy.

Conclusion

Lethal congenital contracture syndrome type 1 is a rare genetic disorder that can cause significant disability and even death. Early diagnosis is essential for providing appropriate medical care and support to affected infants and their families. Genetic testing, including NGS, can confirm the diagnosis of lethal congenital contracture syndrome type 1 and help families understand the cause of their child's condition.

At DNA Labs India, we offer NGS genetic DNA testing for lethal congenital contracture syndrome type 1 and other rare genetic disorders. Our testing is accurate, reliable, and affordable, and we provide fast turnaround times for results. Contact us today to learn more about our services and how we can help you.