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IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The IARS2 gene is associated with a rare, autosomal recessive genetic disorder that presents a spectrum of clinical features including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. This condition is caused by mutations in the IARS2 gene, which plays a crucial role in protein synthesis and mitochondrial function. Early diagnosis and management are essential for improving quality of life and addressing the various aspects of the disorder.

To facilitate the diagnosis, DNA Labs UAE offers a comprehensive genetic test specifically designed to detect mutations in the IARS2 gene. This test is a critical tool for confirming the diagnosis in patients presenting with the characteristic symptoms of the disorder. It involves collecting a DNA sample from the patient, usually through a blood draw or a cheek swab, which is then analyzed in the laboratory using advanced genetic sequencing techniques.

The cost of the IARS2 gene test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a detailed report of the findings. The report not only confirms the presence of mutations in the IARS2 gene but also provides valuable information for healthcare providers to develop an appropriate management plan for the patient. Given the complexity of the disorder, this test is a vital resource for affected individuals and their families, offering them hope for a better understanding and management of the condition.

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IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test

Are you concerned about the possibility of IARS2-related disorder in your family? DNA Labs UAE offers a comprehensive genetic test to help diagnose this rare genetic disorder. Read on to learn more about the IARS2 gene, the symptoms of IARS2-related disorder, the diagnostic process, and the cost of the test.

Test Details

The IARS2 gene is responsible for creating an enzyme called isoleucyl-tRNA synthetase, which plays a crucial role in protein synthesis. Mutations in the IARS2 gene can lead to IARS2-related disorder, a rare genetic disorder characterized by various symptoms, including cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.

The Diagnostic Process

To diagnose IARS2-related disorder, a next-generation sequencing (NGS) genetic test is performed. NGS is a powerful tool that allows for the simultaneous analysis of multiple genes, enabling the identification of genetic mutations associated with various disorders. In the case of IARS2-related disorder, the NGS test analyzes the IARS2 gene to detect any disease-causing mutations.

Cost of the Test

The cost of the IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test is AED 4400.0.

Sample Condition

The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results are typically delivered within 3 to 4 weeks.

Test Type

The IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test falls under the category of Dysmorphology.

Doctor and Test Department

This test is conducted by our experienced pediatricians in the Genetics department.

Pre-Test Information

Before 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 disorder.

Conclusion

The IARS2 Gene Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss and Skeletal Dysplasia Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing IARS2-related disorder. By identifying the specific genetic mutation in the IARS2 gene, healthcare professionals can confirm the diagnosis and provide appropriate medical management and genetic counseling to affected individuals and their families.

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 Dysmorphology
Doctor Pediatrics
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 create an enzyme called isoleucyl-tRNA synthetase. This enzyme plays a crucial role in protein synthesis by attaching the amino acid isoleucine to its corresponding transfer RNA molecule.

Mutations in the IARS2 gene can lead to a rare genetic disorder known as IARS2-related disorder. This disorder is characterized by a variety of symptoms including cataracts (clouding of the lens in the eye), growth hormone deficiency (a condition that affects the production of growth hormone), sensory neuropathy (damage to the nerves responsible for transmitting sensory information), sensorineural hearing loss (hearing loss caused by damage to the inner ear or auditory nerve), and skeletal dysplasia (abnormal bone development).

To diagnose IARS2-related disorder, a next-generation sequencing (NGS) genetic test can be performed. NGS is a powerful tool that allows for the simultaneous analysis of multiple genes, enabling the identification of genetic mutations associated with various disorders. In the case of IARS2-related disorder, the NGS test would analyze the IARS2 gene to detect any disease-causing mutations.

By identifying the specific genetic mutation in the IARS2 gene, healthcare professionals can confirm the diagnosis of IARS2-related disorder and provide appropriate medical management and genetic counseling to affected individuals and their families.

SKU: TEST-4027 Category:

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