Short Description

NGS genetic DNA test detecets for variant and mutation detection in IARS2 gene for Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

PreTest Information

Clinical History of Patient who is going for IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test gene IARS2

Detail Description

IARS2 Gene: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

The IARS2 gene is responsible for producing a protein called isoleucyl-tRNA synthetase, which is essential for protein synthesis. Mutations in this gene can lead to various health conditions, including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. If you are experiencing any of these symptoms, it may be worth considering an NGS genetic DNA test to diagnose the underlying cause.

Symptoms

Each of the health conditions associated with mutations in the IARS2 gene has its own set of symptoms:

• Cataracts: clouding of the eye's lens, leading to blurry vision and glare sensitivity
• Growth hormone deficiency: delayed growth in children and a lack of energy and muscle mass in adults
• Sensory neuropathy: numbness, tingling, or burning sensations in the hands and feet
• Sensorineural hearing loss: difficulty hearing high-pitched sounds and speech comprehension
• Skeletal dysplasia: abnormal bone growth and development, leading to short stature and skeletal deformities

If you are experiencing any of these symptoms, it is important to consult a healthcare professional for a proper diagnosis.

Diagnosis

Diagnosing a mutation in the IARS2 gene typically involves genetic testing. This may include:

• NGS genetic DNA testing
• Sanger sequencing
• PCR testing

NGS genetic DNA testing is a newer and more comprehensive approach to genetic testing. It can detect mutations in multiple genes simultaneously and is often faster and more cost-effective than traditional genetic testing methods.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for mutations in the IARS2 gene can vary depending on the specific test and the testing provider. However, on average, the cost of an NGS genetic DNA test is around INR 20,000.

It is important to note that genetic testing is not always covered by insurance, so it is important to check with your insurance provider before undergoing testing.

Conclusion

If you are experiencing symptoms of cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, or skeletal dysplasia, it may be worth considering genetic testing to diagnose the underlying cause. An NGS genetic DNA test is a comprehensive and cost-effective option for detecting mutations in the IARS2 gene. Talk to your healthcare provider about whether genetic testing is right for you.

At DNA Labs India, we offer NGS genetic DNA testing for mutations in the IARS2 gene and many other genes associated with various health conditions. Contact us to learn more about our testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test