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Number of red blood cells in the blood

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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 Marfan syndrome (FBN1) deletion/duplication analysis test is typically around 21 days.

What are the prerequisites for the test Marfan syndrome (FBN1) deletion/duplication analysis Test

  • Completed and signed test requisition form
  • Patient must meet clinical diagnostic criteria for Marfan syndrome
  • Family history of Marfan syndrome or related disorders
  • Copy of the patient's insurance card
  • Payment information or insurance pre-authorization

What are the measure values for the test Marfan syndrome (FBN1) deletion/duplication analysis Test

  • Test Name: Marfan syndrome (FBN1) deletion/duplication analysis
  • Measure Values:
    • Deletion: Positive result indicating a deletion in the FBN1 gene
    • Duplication: Positive result indicating a duplication in the FBN1 gene
    • Normal: Negative result indicating no deletion or duplication in the FBN1 gene

What does this test Marfan syndrome (FBN1) deletion/duplication analysis Test identify?

This test identifies deletions or duplications in the FBN1 gene, which is associated with Marfan syndrome. Marfan syndrome is a genetic disorder that affects the body's connective tissue and can lead to a variety of symptoms including tall stature, long limbs, heart problems, and eye issues. Identifying deletions or duplications in the FBN1 gene can help confirm a diagnosis of Marfan syndrome and guide treatment decisions.

Why is this test Marfan syndrome (FBN1) deletion/duplication analysis Test taken?

Reasons for Taking the Marfan Syndrome (FBN1) Deletion/Duplication Analysis Test

The Marfan syndrome (FBN1) deletion/duplication analysis test is taken for the following reasons:

  1. Diagnosis: This test is used to confirm a clinical diagnosis of Marfan syndrome in individuals who exhibit symptoms such as tall stature, long limbs, joint hypermobility, and aortic root dilatation.
  2. Genetic Counseling: The test can help identify individuals who have a family history of Marfan syndrome and may be at risk of inheriting the condition. This information can be used for genetic counseling and family planning.
  3. Disease Management: Knowing the genetic cause of Marfan syndrome can help healthcare providers tailor the treatment plan for the individual, monitor potential complications such as aortic dissection, and provide appropriate medical care.
  4. Research Purposes: The test results can contribute to ongoing research efforts to better understand the genetic basis of Marfan syndrome and develop new treatment options.

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