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Accurate Test Results for IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test Cost 20000 Rs
IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test Details
IARS2 Gene: A Comprehensive Understanding of Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia
Genetic testing has revolutionized the field of medicine by helping doctors diagnose and treat various genetic disorders. One such genetic disorder is IARS2 gene-related conditions that cause cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. With the help of Next-Generation Sequencing (NGS) Genetic DNA Test, doctors can now diagnose these conditions accurately and provide proper treatment. In this blog, we will discuss IARS2 gene-related conditions, their symptoms, diagnosis, and the cost of NGS Genetic DNA Test.
IARS2 Gene-related Conditions
The IARS2 gene provides instructions for making an enzyme called isoleucine-tRNA synthetase 2. This enzyme plays a crucial role in the process of protein synthesis. IARS2 gene-related conditions are caused by mutations in the IARS2 gene that affect the function of the isoleucine-tRNA synthetase 2 enzyme. These conditions include:
- Cataracts: A condition in which the lens of the eye becomes cloudy, leading to blurred vision.
- Growth Hormone Deficiency: A condition in which the body does not produce enough growth hormone, leading to stunted growth and development.
- Sensory Neuropathy: A condition in which the nerves that carry information from the skin, muscles, and joints to the brain are damaged, leading to numbness, tingling, and pain.
- Sensorineural Hearing Loss: A condition in which there is damage to the inner ear or the nerve pathways that transmit sound from the inner ear to the brain, leading to hearing loss.
- Skeletal Dysplasia: A group of rare genetic disorders that affect bone growth and development, leading to short stature and skeletal abnormalities.
Symptoms of IARS2 Gene-related Conditions
The symptoms of IARS2 gene-related conditions vary depending on the specific condition and the severity of the mutation. However, some common symptoms include:
- Blurred vision and sensitivity to glare (in the case of cataracts)
- Stunted growth and development (in the case of growth hormone deficiency)
- Numbness, tingling, and pain in the hands and feet (in the case of sensory neuropathy)
- Hearing loss and difficulty understanding speech (in the case of sensorineural hearing loss)
- Short stature and skeletal abnormalities (in the case of skeletal dysplasia)
Diagnosis of IARS2 Gene-related Conditions
The diagnosis of IARS2 gene-related conditions is typically made through genetic testing. Next-Generation Sequencing (NGS) Genetic DNA Test is a highly accurate and efficient method of genetic testing that can detect mutations in the IARS2 gene. The test involves collecting a sample of the patient's DNA, usually through a blood test or a cheek swab. The DNA sample is then analyzed in a laboratory using NGS technology to identify any mutations in the IARS2 gene.
Cost of NGS Genetic DNA Test for IARS2 Gene-related Conditions
The cost of NGS Genetic DNA Test for IARS2 gene-related conditions in India is approximately INR 20,000. However, the cost may vary depending on the specific laboratory and the type of test performed. It is important to consult with a doctor or genetic counselor to determine whether genetic testing is necessary and which specific test is most appropriate for the patient's needs.
Conclusion
IARS2 gene-related conditions are rare genetic disorders that can cause a range of symptoms, including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. With the help of Next-Generation Sequencing (NGS) Genetic DNA Test, doctors can accurately diagnose these conditions and provide proper treatment. If you or someone you know is experiencing symptoms of IARS2 gene-related conditions, consult with a doctor or genetic counselor to determine whether genetic testing is necessary.
At DNA Labs India, we offer NGS Genetic DNA Test for IARS2 Gene-related conditions. Our test is highly accurate and efficient, providing accurate results in a timely manner. Contact us today to learn more about our genetic testing services.
