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Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days the report can be obtained for the test Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel is 21 days.

What are the prerequisites for the test Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel

  • Patients with suspected Leigh syndrome or mitochondrial encephalopathy
  • Clinical symptoms such as developmental delay, muscle weakness, and lactic acidosis
  • History of seizures, vision loss, and hearing loss
  • Family history of mitochondrial disorders
  • Confirmation of mitochondrial dysfunction through biochemical testing

What are the measure values for the test Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel

Test Measure Values
Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel
  • ATP6
  • ATP8
  • COX1
  • COX2
  • COX3
  • ND1
  • ND2
  • ND3
  • ND4
  • ND4L
  • ND5
  • ND6

What does this test Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel identify?

  • Leigh Syndrome: This gene panel identifies mutations in genes associated with Leigh Syndrome, a rare neurological disorder that typically appears in infancy or early childhood. Symptoms of Leigh Syndrome can include developmental delay, muscle weakness, movement disorders, and respiratory problems.
  • Mitochondrial Encephalopathy: This gene panel also identifies mutations in genes associated with Mitochondrial Encephalopathy, a group of disorders that affect the brain and nervous system due to dysfunction in the mitochondria. Symptoms can vary widely but may include seizures, developmental delay, muscle weakness, and vision or hearing problems.

Why is this test Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel taken?

Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel test is taken to identify mutations in genes associated with Leigh Syndrome and Mitochondrial Encephalopathy. These conditions are rare genetic disorders that affect the central nervous system and are caused by mutations in mitochondrial DNA or nuclear DNA.

The test helps in confirming a diagnosis of Leigh Syndrome or Mitochondrial Encephalopathy in individuals showing symptoms such as developmental delays, muscle weakness, movement disorders, seizures, and respiratory problems. It also helps in determining the genetic cause of the condition, which can guide treatment decisions and provide information on the risk of passing the condition to future generations.

Overall, the Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel test is important for accurate diagnosis, personalized treatment, and genetic counseling for individuals and families affected by these rare genetic disorders.

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