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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 for obtaining the report for the MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test is 14 days.

What are the prerequisites for the test MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test

  • Patients must have a clinical suspicion of Duchenne or Becker Muscular Dystrophy.
  • Patients must have a referral from a qualified healthcare provider.
  • Patients must have genetic counseling prior to testing.
  • A blood sample is required for testing.

What are the measure values for the test MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test

Measure Value
Deletion/Duplication Positive/Negative
Deletion Size NA
Duplication Size NA
Point Mutation Detection Positive/Negative
Sequence Variant Detection Positive/Negative

What does this test MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test identify?

  • This test, MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test, identifies mutations in the DMD gene that are associated with Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD).
  • DMD is a severe form of muscular dystrophy that primarily affects boys and typically presents in early childhood. It is characterized by progressive muscle weakness and loss of muscle mass.
  • BMD is a milder form of muscular dystrophy that usually presents later in childhood or adolescence. Symptoms of BMD are typically less severe than those of DMD.
  • The MLPA test detects deletions or duplications in the DMD gene, which are the most common cause of DMD and BMD. By identifying these mutations, the test can help diagnose individuals with DMD or BMD and guide treatment and management decisions.

Why is this test MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test taken?

The MLPA- Duchenne & Becker Muscular Dystrophy (DMD/BMD) Test is taken to diagnose Duchenne and Becker Muscular Dystrophy, which are genetic disorders that cause progressive muscle weakness and degeneration. These conditions are caused by mutations in the DMD gene, which codes for the protein dystrophin. The MLPA test is used to detect deletions or duplications in the DMD gene, which can confirm a diagnosis of DMD or BMD.

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