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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 Polymerase Gamma (POLG) Gene Analysis Test is 14 days.

What are the prerequisites for the test Polymerase Gamma (POLG) Gene Analysis Test

  • There are no specific prerequisites for the Polymerase Gamma (POLG) Gene Analysis Test. However, it is recommended to consult with a healthcare provider before undergoing the test.
  • The test may be recommended for individuals with a family history of mitochondrial disorders or suspected mitochondrial disease symptoms.
  • Prior to the test, patients may be required to provide a blood or saliva sample for DNA analysis.
  • It is important to discuss any medications, medical conditions, or allergies with the healthcare provider before the test.

What are the measure values for the test Polymerase Gamma (POLG) Gene Analysis Test

  1. Deletion/Duplication Analysis: Reportable
  2. Sequence Analysis: Full gene sequencing
  3. Variant Analysis: Pathogenic variants identified

What does this test Polymerase Gamma (POLG) Gene Analysis Test identify?

This test identifies mutations in the Polymerase Gamma (POLG) gene. POLG is responsible for encoding an enzyme involved in the replication and repair of mitochondrial DNA. Mutations in this gene can lead to a variety of mitochondrial disorders, including progressive external ophthalmoplegia, Alpers syndrome, and myoclonic epilepsy with ragged red fibers.

Why is this test Polymerase Gamma (POLG) Gene Analysis Test taken?

  1. The Polymerase Gamma (POLG) Gene Analysis Test is taken to diagnose disorders caused by mutations in the POLG gene.
  2. This test is used to confirm a suspected diagnosis of POLG-related disorders, such as Alpers syndrome, mitochondrial DNA depletion syndrome, or progressive external ophthalmoplegia.
  3. It helps in determining the risk of passing on a POLG gene mutation to offspring, particularly in individuals with a family history of POLG-related disorders.
  4. The test is also used to guide treatment decisions and management strategies for individuals with POLG-related disorders.

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