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PC Gene Leigh syndrome due to pyruvate carboxylase deficiency Genetic Test

4,400 د.إ

-21%

Pyruvate carboxylase deficiency is a rare genetic disorder that leads to Leigh syndrome, a severe neurological condition characterized by progressive loss of mental and movement abilities. The condition stems from mutations in the PC gene, which plays a critical role in energy production within cells. To diagnose this condition, a genetic test can be performed to identify mutations in the PC gene associated with the syndrome.

DNA Labs UAE offers a specialized genetic test for diagnosing PC gene Leigh syndrome due to pyruvate carboxylase deficiency. The test is designed to detect specific genetic mutations in the PC gene, providing crucial information for confirming the diagnosis and guiding treatment decisions. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify the mutations associated with this condition.

Undergoing this genetic test at DNA Labs UAE can be an essential step for families seeking answers about symptoms related to Leigh syndrome and pyruvate carboxylase deficiency. Early diagnosis through genetic testing can enable timely intervention and management strategies to improve the quality of life for affected individuals.

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PC Gene Leigh Syndrome Genetic Test

Are you or a loved one experiencing symptoms of PC Gene Leigh syndrome? DNA Labs UAE offers a comprehensive genetic test to diagnose this rare neurological disorder. Read on to learn more about the test components, cost, symptoms, diagnosis, and more.

Test Components and Price

The PC Gene Leigh syndrome genetic test costs AED 4400.0. The test components include:

  • 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

Prior to undergoing the PC Gene Leigh syndrome genetic test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by PC Gene Leigh syndrome due to pyruvate carboxylase deficiency.

About PC Gene Leigh Syndrome

PC Gene Leigh syndrome is a rare genetic disorder caused by mutations in the PC gene, which encodes for the enzyme pyruvate carboxylase. This enzyme plays a crucial role in energy production by converting pyruvate into oxaloacetate in the mitochondria.

NGS Technology for Diagnosis

NGS (Next-Generation Sequencing) genetic testing is utilized to identify mutations in the PC gene that may be causing PC Gene Leigh syndrome. This advanced sequencing technology allows for the simultaneous analysis of multiple genes. The process involves extracting DNA from a blood sample or other tissue and sequencing it to identify any variations or mutations in the genes of interest.

Benefits of NGS Genetic Testing

NGS genetic testing not only aids in the diagnosis of PC Gene Leigh syndrome by identifying associated mutations in the PC gene but also provides valuable information about specific mutations causing the disorder. This information can be used for genetic counseling, family planning, prognosis, and treatment decisions.

Availability and Coverage

Please note that NGS genetic testing may not be available in all healthcare settings and may require a referral to a specialized genetics center or laboratory. Additionally, the cost and coverage of NGS genetic testing can vary depending on the specific testing facility and insurance coverage.

Don’t wait any longer. Get the answers you need with the PC Gene Leigh syndrome genetic test offered by DNA Labs UAE. Contact us today to schedule an appointment.

Test Name PC Gene Leigh syndrome due to pyruvate carboxylase deficiency 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 PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PC Gene Leigh syndrome due to pyruvate carboxylase deficiency
Test Details

PC Gene Leigh syndrome is a rare genetic disorder caused by mutations in the PC gene, which encodes for the enzyme pyruvate carboxylase. Pyruvate carboxylase is responsible for an important step in energy production, converting pyruvate into oxaloacetate in the mitochondria.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of PC Gene Leigh syndrome, NGS can be used to identify mutations in the PC gene that may be causing the disorder.

NGS genetic testing typically involves extracting DNA from a blood sample or other tissue, and then sequencing the DNA to identify any variations or mutations in the genes of interest. This can help diagnose PC Gene Leigh syndrome by identifying mutations in the PC gene that are known to be associated with the disorder.

NGS genetic testing can also be used to provide information about the specific mutation(s) causing the disorder, which can be useful for genetic counseling and family planning purposes. Additionally, it can help with prognosis and treatment decisions for individuals with PC Gene Leigh syndrome.

It is important to note that NGS genetic testing may not be available in all healthcare settings and may require a referral to a specialized genetics center or laboratory. Additionally, the cost and coverage of NGS genetic testing can vary depending on the specific testing facility and insurance coverage.