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: A Comprehensive Guide to Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

The IARS2 gene is a gene that encodes the mitochondrial isoleucyl-tRNA synthetase, which is responsible for the synthesis of isoleucine transfer RNA. Any mutations in this gene can lead to a range of genetic disorders, including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. In this blog post, we will be discussing the symptoms, diagnosis, and NGS genetic DNA test cost associated with the IARS2 gene.

Symptoms of IARS2 Gene Mutations

The symptoms of IARS2 gene mutations can vary depending on the specific mutation present. However, some common symptoms include:

• Cataracts
• Growth hormone deficiency
• Sensory neuropathy
• Sensorineural hearing loss
• Skeletal dysplasia

In some cases, mutations in the IARS2 gene can also lead to developmental delays and intellectual disabilities.

Diagnosis of IARS2 Gene Mutations

Diagnosing IARS2 gene mutations typically involves a combination of physical exams, medical history, and genetic testing. A doctor may perform a physical exam to look for signs of skeletal dysplasia or other physical abnormalities. They may also ask about family history and any symptoms the individual is experiencing.

Genetic testing is the most reliable way to diagnose IARS2 gene mutations. This may involve a blood test or a buccal swab, which collects cells from the inside of the cheek. The genetic test will look for mutations in the IARS2 gene and can determine if an individual is a carrier of the mutation or has the mutation themselves.

NGS Genetic DNA Test Cost for IARS2 Gene Mutations

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

It is important to note that genetic testing may not be covered by insurance, so individuals should check with their insurance provider before undergoing testing. Additionally, some labs may offer financial assistance or payment plans to help cover the cost of testing.

Conclusion

IARS2 gene mutations can lead to a range of genetic disorders, including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. Diagnosing these mutations typically involves a combination of physical exams and genetic testing, and the cost of NGS genetic DNA testing can vary depending on the lab and specific test being performed. If you suspect you or a loved one may have an IARS2 gene mutation, talk to a healthcare provider about testing options.

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