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Reports Within

Parameters

Reports Within:

Parameter Include:

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 report delivery for the Connective Tissue Disorders Gene Panel test is 14 days.

What are the prerequisites for the test Connective Tissue Disorders Gene Panel

  • Patient must be referred by a healthcare provider
  • Completed test requisition form
  • Consent form signed by the patient or legal guardian
  • Relevant clinical information provided
  • Payment or insurance information provided

What are the measure values for the test Connective Tissue Disorders Gene Panel

Measure Value
Collagen Type I Alpha 1 Chain (COL1A1) Gene Mutation Positive/Negative
Collagen Type III Alpha 1 Chain (COL3A1) Gene Mutation Positive/Negative
Ehlers-Danlos Syndrome (EDS) Genetic Variant Positive/Negative
Marfan Syndrome Genetic Variant Positive/Negative

What does this test Connective Tissue Disorders Gene Panel identify?

  • Collagen Disorders: This panel can identify mutations in genes that are associated with various collagen disorders such as Ehlers-Danlos syndrome, osteogenesis imperfecta, and Stickler syndrome.
  • Elastin Disorders: Mutations in genes related to elastin disorders like Williams syndrome can be detected through this test.
  • Fibrillin Disorders: The panel can identify mutations in genes associated with fibrillin disorders such as Marfan syndrome.
  • Other Connective Tissue Disorders: Mutations in genes linked to other connective tissue disorders like Loeys-Dietz syndrome and Cutis Laxa can also be identified using this test.

Why is this test Connective Tissue Disorders Gene Panel taken?

Connective Tissue Disorders Gene Panel is taken to diagnose and assess various genetic disorders that affect the connective tissue in the body. Connective tissue disorders can impact various parts of the body including skin, joints, blood vessels, and organs. This test helps identify specific genetic mutations or abnormalities that may be causing the connective tissue disorder.

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