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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 Pompe Disease (GAA) Gene Analysis Test is typically 10-14 working days from the date of sample collection. However, the exact turnaround time may vary depending on the laboratory performing the test and other factors such as sample volume and logistics.

What are the prerequisites for the test Pompe Disease (GAA) Gene Analysis Test

  • Completed Test Requisition Form
  • Consent form signed by the patient or legal guardian
  • Specimen type: EDTA whole blood or isolated DNA
  • Minimum of 3 ml of blood in EDTA tube for DNA extraction
  • For prenatal testing, amniotic fluid or chorionic villus sample is required
  • Refrain from smoking for at least 30 minutes before blood collection
  • Inform the laboratory of any medications or supplements being taken
  • Provide detailed clinical information and family history

What are the measure values for the test Pompe Disease (GAA) Gene Analysis Test

  • Test Name: Pompe Disease (GAA) Gene Analysis Test
  • Measure Values:
    • Gene Mutation Detection
    • Enzyme Activity Level
    • Genetic Counseling
    • Carrier Screening

What does this test Pompe Disease (GAA) Gene Analysis Test identify?

  • The Pompe Disease (GAA) Gene Analysis Test identifies mutations in the GAA gene which is responsible for producing the enzyme acid alpha-glucosidase (GAA).
  • Deficiencies in GAA enzyme activity can lead to the accumulation of glycogen in various tissues, particularly in muscles.
  • This test helps in diagnosing Pompe disease, a rare genetic disorder that affects the breakdown of glycogen and leads to muscle weakness and other symptoms.
  • Early detection of mutations in the GAA gene can help in providing appropriate treatment and management strategies for individuals with Pompe disease.

Why is this test Pompe Disease (GAA) Gene Analysis Test taken?

The Pompe Disease (GAA) Gene Analysis Test is taken to diagnose or confirm the presence of Pompe disease, a rare genetic disorder that affects the muscles and can lead to muscle weakness and other symptoms. This test specifically looks for mutations in the GAA gene, which is responsible for producing an enzyme called acid alpha-glucosidase that is needed to break down glycogen in the body.

By analyzing the GAA gene, this test can determine if a person has mutations that prevent the production of functional acid alpha-glucosidase, leading to the buildup of glycogen in the muscles and other tissues. This information is important for diagnosing Pompe disease, guiding treatment decisions, and assessing the risk of passing on the genetic mutation to future generations.

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