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YARS2 Gene Myopathy Lactic Acidosis and Sideroblastic Anemia Type 2 Genetic Test

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

-21%

The “YARS2 Gene Myopathy Lactic Acidosis and Sideroblastic Anemia Type 2 Genetic Test” is a specialized diagnostic assessment offered by DNA Labs UAE, designed to detect mutations in the YARS2 gene. These mutations are responsible for a rare but severe condition that combines features of myopathy, lactic acidosis, and sideroblastic anemia. Myopathy affects muscle fibers, lactic acidosis involves an excess of lactic acid in the body, and sideroblastic anemia is a disorder where the bone marrow produces ringed sideroblasts rather than healthy red blood cells. The accurate identification of mutations in the YARS2 gene through this test is crucial for the diagnosis, management, and understanding of the patient’s condition. The test is priced at 4400 AED, reflecting the sophisticated technology and expertise required to perform this genetic analysis. Conducted at DNA Labs UAE, this test represents an important tool in the diagnosis and treatment planning for patients affected by these complex, interconnected conditions.

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YARS2 Gene Myopathy lactic acidosis and sideroblastic anemia type 2 Genetic Test

Test Details

YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2 is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the YARS2 gene, which provides instructions for making an enzyme called mitochondrial tyrosyl-tRNA synthetase. This genetic disorder primarily affects the muscles, causing muscle weakness, wasting, and myopathy (muscle disease). Individuals with YARS2 gene mutations may also experience lactic acidosis, a condition characterized by the buildup of lactic acid in the body. Sideroblastic anemia, a type of anemia characterized by abnormal iron metabolism and the inability to produce healthy red blood cells, is another feature of this condition.

Test Name

YARS2 Gene Myopathy lactic acidosis and sideroblastic anemia type 2 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: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2.

Test Procedure

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2, NGS genetic testing can be used to identify mutations in the YARS2 gene, confirming the diagnosis of this specific genetic disorder. This genetic test involves obtaining a DNA sample, typically through a blood sample or a cheek swab, from the individual suspected of having the condition. The DNA is then sequenced using NGS technology, which allows for the detection of genetic variations or mutations in the YARS2 gene.

Test Results

The results of the test can help in confirming the diagnosis and guiding appropriate management and treatment options for the individual. It is important to consult with a healthcare professional or a genetic counselor to discuss the specific details and implications of undergoing NGS genetic testing for YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2. They can provide more information about the test, its benefits, limitations, and potential implications for the individual and their family members.

Test Name YARS2 Gene Myopathy lactic acidosis and sideroblastic anemia 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 YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2
Test Details

YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2 is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the YARS2 gene, which provides instructions for making an enzyme called mitochondrial tyrosyl-tRNA synthetase.

This genetic disorder primarily affects the muscles, causing muscle weakness, wasting, and myopathy (muscle disease). Individuals with YARS2 gene mutations may also experience lactic acidosis, a condition characterized by the buildup of lactic acid in the body. Sideroblastic anemia, a type of anemia characterized by abnormal iron metabolism and the inability to produce healthy red blood cells, is another feature of this condition.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2, NGS genetic testing can be used to identify mutations in the YARS2 gene, confirming the diagnosis of this specific genetic disorder.

This genetic test involves obtaining a DNA sample, typically through a blood sample or a cheek swab, from the individual suspected of having the condition. The DNA is then sequenced using NGS technology, which allows for the detection of genetic variations or mutations in the YARS2 gene. The results of the test can help in confirming the diagnosis and guiding appropriate management and treatment options for the individual.

It is important to consult with a healthcare professional or a genetic counselor to discuss the specific details and implications of undergoing NGS genetic testing for YARS2 gene myopathy, lactic acidosis, and sideroblastic anemia type 2. They can provide more information about the test, its benefits, limitations, and potential implications for the individual and their family members.

SKU: TEST-1801 Category:

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