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HARS2 Gene Perrault Syndrome Type 2 Genetic Test

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

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The HARS2 Gene Perrault Syndrome Type 2 Genetic Test is a specific diagnostic tool available at DNA Labs UAE, aimed at identifying mutations in the HARS2 gene, which are linked to Perrault Syndrome Type 2. Perrault Syndrome is a rare genetic disorder characterized by sensorineural hearing loss in males and females, coupled with ovarian dysfunction in females, leading to premature ovarian failure. This condition can also present additional neurological symptoms in some cases.

The test involves analyzing the patient’s DNA to detect mutations in the HARS2 gene, which plays a crucial role in mitochondrial protein synthesis. Mutations in this gene disrupt normal cellular functions, leading to the manifestations of Perrault Syndrome. Early and accurate diagnosis through this genetic test can aid in better management of the condition, although there is currently no cure. It provides crucial information for affected individuals and their families regarding the nature of the disorder, potential treatments, and implications for family planning.

The cost of the HARS2 Gene Perrault Syndrome Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This price reflects the specialized nature of the test, the expertise required to interpret the results, and the comprehensive care associated with genetic counseling that may follow the diagnosis. DNA Labs UAE is equipped with advanced technology and staffed by professionals skilled in genetic diagnostics, ensuring reliable and accurate test results.

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HARS2 Gene Perrault Syndrome Type 2 Genetic Test

Overview

The HARS2 gene is responsible for providing instructions to make an enzyme called histidyl-tRNA synthetase 2. This enzyme plays a crucial role in protein synthesis by attaching the amino acid histidine to its corresponding transfer RNA (tRNA) molecule. Perrault syndrome type 2 is a rare genetic disorder that is caused by mutations in the HARS2 gene.

Test Information

  • Test Name: HARS2 Gene Perrault Syndrome Type 2 Genetic Test
  • Components: Blood or Extracted DNA or One drop Blood on FTA Card
  • 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics
  • Pre Test Information: Clinical History of Patient who is going for HARS2 Gene Perrault Syndrome Type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HARS2 Gene Perrault Syndrome Type 2.

NGS Genetic Testing

NGS (Next-Generation Sequencing) Genetic Testing is a high-throughput technology that allows for the rapid sequencing of multiple genes simultaneously. It is used to identify genetic mutations or variants in an individual’s DNA. In the case of Perrault syndrome type 2, NGS Genetic Testing can be used to analyze the HARS2 gene and identify any mutations or variants that may be causing the disorder.

By identifying specific mutations in the HARS2 gene, NGS Genetic Testing can help diagnose Perrault syndrome type 2 and provide valuable information for genetic counseling and management of the condition. It can also be used for carrier testing in individuals with a family history of the disorder.

Test Name HARS2 Gene Perrault syndrome type 2 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for HARS2 Gene Perrault syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HARS2 Gene Perrault syndrome type 2
Test Details

The HARS2 gene is responsible for providing instructions to make an enzyme called histidyl-tRNA synthetase 2. This enzyme plays a crucial role in protein synthesis by attaching the amino acid histidine to its corresponding transfer RNA (tRNA) molecule. Perrault syndrome type 2 is a rare genetic disorder that is caused by mutations in the HARS2 gene.

NGS (Next-Generation Sequencing) Genetic Testing is a high-throughput technology that allows for the rapid sequencing of multiple genes simultaneously. It is used to identify genetic mutations or variants in an individual’s DNA. In the case of Perrault syndrome type 2, NGS Genetic Testing can be used to analyze the HARS2 gene and identify any mutations or variants that may be causing the disorder.

By identifying specific mutations in the HARS2 gene, NGS Genetic Testing can help diagnose Perrault syndrome type 2 and provide valuable information for genetic counseling and management of the condition. It can also be used for carrier testing in individuals with a family history of the disorder.

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