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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 for obtaining the report for the McArdle Disease Gene Analysis Test is 14 days.

What are the prerequisites for the test McArdle Disease Gene Analysis Test

  • Confirmation of symptoms suggestive of McArdle disease
  • Fasting for at least 3 hours before the test
  • A signed consent form from the patient or legal guardian
  • Patient must not have had recent strenuous exercise prior to the test
  • Patient must not be taking any medications that could affect test results

What are the measure values for the test McArdle Disease Gene Analysis Test

  • Gene analysis result: Positive or Negative
  • Genetic mutation detected: Yes or No
  • McArdle Disease carrier status: Carrier or Non-Carrier
  • Enzyme activity level: Normal or Reduced

What does this test McArdle Disease Gene Analysis Test identify?

  • McArdle Disease Gene Analysis Test:
  • The McArdle Disease Gene Analysis Test is a genetic test that identifies mutations in the PYGM gene which is responsible for McArdle disease, also known as Glycogen Storage Disease Type V.
  • This test helps in diagnosing McArdle disease, a rare genetic disorder that affects the muscles' ability to break down glycogen, leading to muscle weakness, cramping, and exercise intolerance.
  • By analyzing the PYGM gene, this test can confirm the diagnosis of McArdle disease, guide treatment options, and provide genetic counseling to affected individuals and their families.

Why is this test McArdle Disease Gene Analysis Test taken?

McArdle Disease Gene Analysis Test is taken to diagnose McArdle disease, also known as glycogen storage disease type V. This genetic disorder affects the muscles' ability to break down glycogen, leading to muscle pain, fatigue, and cramping during exercise.

The test is usually recommended when an individual presents with symptoms such as muscle weakness, exercise intolerance, and elevated levels of creatine kinase in the blood. It helps to confirm the diagnosis by identifying mutations in the PYGM gene, which is responsible for encoding the enzyme myophosphorylase.

Early detection of McArdle disease through genetic testing can help in managing the symptoms and preventing complications. It also allows for genetic counseling to assess the risk of passing on the condition to future generations.

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