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Parameters

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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 a report for the Myotonic Dystrophy For DMPK Gene Test is typically 14-21 days.

What are the prerequisites for the test Myotonic Dystrophy For DMPK Gene Test

  • Requisition form filled out completely and accurately
  • Specimen type: Whole blood in EDTA tube
  • Specimen volume: 5-10 mL
  • Specimen stability: Stable at room temperature or refrigerated for up to 5 days
  • Specimen transport: Ship at room temperature
  • Test includes analysis of the DMPK gene for the presence of CTG repeat expansion
  • Test results typically available in 14-21 days

What are the measure values for the test Myotonic Dystrophy For DMPK Gene Test

  1. Normal: Less than 35 CTG repeats
  2. Intermediate: 35-49 CTG repeats
  3. Premutation: 50-150 CTG repeats
  4. Full mutation: Greater than 150 CTG repeats

What does this test Myotonic Dystrophy For DMPK Gene Test identify?

Myotonic Dystrophy For DMPK Gene Test

The DMPK Gene Test is used to identify the presence of mutations in the DMPK gene, which is associated with Myotonic Dystrophy. Myotonic Dystrophy is a genetic disorder that affects muscle function and can cause muscle weakness, myotonia (prolonged muscle contractions), and other symptoms.

By analyzing the DMPK gene, this test can determine if an individual carries a genetic mutation that predisposes them to Myotonic Dystrophy. Identifying these mutations can help in early diagnosis and management of the condition.

Why is this test Myotonic Dystrophy For DMPK Gene Test taken?

Myotonic Dystrophy is a genetic disorder that affects muscle function and can lead to muscle weakness and wasting. It is caused by a mutation in the DMPK gene. The DMPK gene test is taken to diagnose Myotonic Dystrophy by identifying any mutations in the DMPK gene. This test can help in confirming a diagnosis, determining the type and severity of the condition, and providing information for genetic counseling and family planning.

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