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PDHA1 Gene Leigh syndrome X-linked Genetic Test

4,400 د.إ

-21%

Leigh syndrome, a severe neurological disorder, often manifests in infancy and is characterized by progressive loss of mental and movement abilities. The PDHA1 gene plays a crucial role in this condition, especially in cases with an X-linked inheritance pattern. Mutations in the PDHA1 gene disrupt cellular energy production, leading to the symptoms observed in Leigh syndrome.

DNA Labs UAE offers a specialized genetic test aimed at detecting mutations in the PDHA1 gene associated with X-linked Leigh syndrome. This test is crucial for diagnosing the disorder, understanding its inheritance pattern, and informing treatment options. It involves collecting a DNA sample, typically through a blood draw, and analyzing the PDHA1 gene for specific mutations.

The cost of the PDHA1 gene Leigh syndrome X-linked genetic test at DNA Labs UAE is 4400 AED. The test provides valuable insights for affected families, aiding in the management of the condition and genetic counseling.

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PDHA1 Gene Leigh Syndrome X-linked Genetic Test

Test Details

PDHA1 gene Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the PDHA1 gene, which is located on the X chromosome. This means that the condition is inherited in an X-linked recessive manner, primarily affecting males.

Leigh syndrome is a progressive disorder characterized by the degeneration of the brain and the central nervous system. Symptoms typically begin in infancy or early childhood and may include developmental delays, muscle weakness, poor coordination, seizures, respiratory problems, and vision and hearing impairments. The severity and progression of the disease can vary widely among affected individuals.

Test Name: PDHA1 Gene Leigh Syndrome X-linked 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 PDHA1 Gene Leigh syndrome, X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDHA1 Gene Leigh syndrome, X-linked.

NGS Technology

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It can be used to identify mutations or changes in the PDHA1 gene associated with Leigh syndrome. NGS testing allows for the analysis of multiple genes simultaneously, providing a more comprehensive view of an individual’s genetic makeup.

Importance of Genetic Testing

Genetic testing for PDHA1 gene Leigh syndrome can help confirm a diagnosis and provide important information for medical management and genetic counseling. It can also help identify carriers of the condition within a family and inform reproductive decisions.

It is important to consult with a genetic counselor or healthcare professional to discuss the benefits, limitations, and potential risks of genetic testing before undergoing any testing procedure.

Test Name PDHA1 Gene Leigh syndrome X-linked 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 PDHA1 Gene Leigh syndrome, X-linked NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDHA1 Gene Leigh syndrome, X-linked
Test Details

PDHA1 gene Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the PDHA1 gene, which is located on the X chromosome. This means that the condition is inherited in an X-linked recessive manner, primarily affecting males.

Leigh syndrome is a progressive disorder characterized by the degeneration of the brain and the central nervous system. Symptoms typically begin in infancy or early childhood and may include developmental delays, muscle weakness, poor coordination, seizures, respiratory problems, and vision and hearing impairments. The severity and progression of the disease can vary widely among affected individuals.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It can be used to identify mutations or changes in the PDHA1 gene associated with Leigh syndrome. NGS testing allows for the analysis of multiple genes simultaneously, providing a more comprehensive view of an individual’s genetic makeup.

Genetic testing for PDHA1 gene Leigh syndrome can help confirm a diagnosis and provide important information for medical management and genetic counseling. It can also help identify carriers of the condition within a family and inform reproductive decisions.

It is important to consult with a genetic counselor or healthcare professional to discuss the benefits, limitations, and potential risks of genetic testing before undergoing any testing procedure.