IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test
At DNA Labs UAE, we offer the IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test. This comprehensive test helps diagnose IARS2-related disorders, a rare genetic disorder caused by mutations in the IARS2 gene.
Test Details
The IARS2 gene provides instructions for producing the isoleucine-tRNA synthetase enzyme. Mutations in this gene can result in IARS2-related disorders, which present with various symptoms including:
- Cataracts (clouding of the lens in the eye)
- Growth hormone deficiency (reduced production of growth hormone)
- Sensory neuropathy (damage to sensory nerves resulting in abnormal sensations)
- Sensorineural hearing loss (hearing loss due to damage in the inner ear or auditory nerve)
- Skeletal dysplasia (abnormal bone development)
To diagnose IARS2-related disorders, we perform a next-generation sequencing (NGS) genetic test. This involves sequencing the DNA to identify any mutations or variations in the IARS2 gene that may be causing the symptoms.
It is important to note that a genetic test alone cannot confirm a diagnosis. The results of the genetic test should be interpreted by a medical professional who can consider the patient’s clinical presentation, family history, and other relevant factors to make an accurate diagnosis.
Our test is conducted using NGS technology, ensuring accurate and reliable results. The test can be performed using blood or extracted DNA, or even a single drop of blood on an FTA card.
Test Components and Price
The IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test is priced at 4400.0 AED.
Report Delivery
Once the test is conducted, the report will be delivered within 3 to 4 weeks.
Referring Doctor and Test Department
The referring doctor for this test is a General Physician. The test is conducted in our Genetics department.
Pre Test Information
Prior to undergoing the IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by IARS2-related disorders.
Genetic counseling can help discuss the implications of the test results and provide support to the individual and their family.
At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Contact us today to schedule your IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test.
| Test Name | IARS2 Gene Cataracts growth hormone deficiency sensory neuropathy sensorineural hearing loss and skeletal dysplasia Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The IARS2 gene is responsible for providing instructions to produce the isoleucine-tRNA synthetase enzyme. Mutations in this gene can lead to a rare genetic disorder known as IARS2-related disorders. Individuals with IARS2-related disorders may present with various symptoms, including cataracts (clouding of the lens in the eye), growth hormone deficiency (reduced production of growth hormone), sensory neuropathy (damage to sensory nerves resulting in abnormal sensations), sensorineural hearing loss (hearing loss due to damage in the inner ear or auditory nerve), and skeletal dysplasia (abnormal bone development). To diagnose IARS2-related disorders, a next-generation sequencing (NGS) genetic test can be performed. This test involves sequencing the DNA to identify any mutations or variations in the IARS2 gene that may be causing the symptoms. It is important to note that a genetic test alone cannot confirm a diagnosis. The results of the genetic test should be interpreted by a medical professional who can consider the patient’s clinical presentation, family history, and other relevant factors to make an accurate diagnosis. Genetic counseling may also be recommended to discuss the implications of the test results and provide support to the individual and their family. |
