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Parameters

Reports Within:

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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 Pulmonary Surfactant Metabolism Dysfunction Gene Panel is 14 days.

What are the prerequisites for the test Pulmonary Surfactant Metabolism Dysfunction Gene Panel

  • Patient must have a suspected or confirmed diagnosis of a pulmonary surfactant metabolism dysfunction disorder
  • Physician referral for genetic testing
  • Completed test requisition form
  • Specimen collection kit
  • Properly collected and shipped specimen

What are the measure values for the test Pulmonary Surfactant Metabolism Dysfunction Gene Panel

Measure Value
SP-B Normal
SP-C Decreased
ABCA3 Normal
LAMP3 Increased

What does this test Pulmonary Surfactant Metabolism Dysfunction Gene Panel identify?

  • Pulmonary Surfactant Metabolism Dysfunction Gene Panel identifies mutations in genes associated with surfactant metabolism dysfunction disorders.
  • It specifically looks for mutations in genes such as ABCA3, SFTPC, SFTPB, and NKX2-1.
  • These mutations can lead to various lung diseases such as interstitial lung disease, pulmonary fibrosis, and surfactant protein deficiencies.
  • Identification of these mutations can help in diagnosing and managing these conditions, as well as providing information on genetic counseling and family planning.

Why is this test Pulmonary Surfactant Metabolism Dysfunction Gene Panel taken?

  • This test is taken to diagnose rare genetic disorders that affect pulmonary surfactant metabolism.
  • Pulmonary surfactant is a substance that coats the inside of the lungs and helps them expand and contract smoothly during breathing.
  • Dysfunction in pulmonary surfactant metabolism can lead to respiratory distress and other lung problems.
  • The gene panel test looks for mutations in specific genes known to be associated with pulmonary surfactant metabolism dysfunction.
  • Results from this test can help healthcare providers determine the best course of treatment for patients with these genetic disorders.

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