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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

Maximum Days for Sotos Syndrome Gene Panel Report

The report for the Sotos Syndrome Gene Panel test can be obtained within 7-10 business days from the date of sample collection.

What are the prerequisites for the test Sotos Syndrome Gene Panel

  • A signed informed consent form must be submitted along with the test requisition form.
  • Complete clinical and family history information must be provided.
  • Any relevant medical records or test results should be included.
  • Payment or insurance information must be provided.

What are the measure values for the test Sotos Syndrome Gene Panel

  • NSD1 gene sequencing: 98% sensitivity
  • NSD1 gene deletion/duplication analysis: 95% sensitivity
  • SDC2 gene sequencing: 92% sensitivity
  • SDC2 gene deletion/duplication analysis: 88% sensitivity

What does this test Sotos Syndrome Gene Panel identify?

  • The Sotos Syndrome Gene Panel identifies mutations in specific genes known to be associated with Sotos syndrome.
  • These genes include NSD1, NFIX, and ATRX among others.
  • Testing for mutations in these genes can help confirm a diagnosis of Sotos syndrome in individuals showing symptoms of the condition.
  • Identifying mutations in these genes can also provide information on the specific genetic cause of Sotos syndrome in an individual, which can be helpful for medical management and genetic counseling.

Why is this test Sotos Syndrome Gene Panel taken?

The Sotos Syndrome Gene Panel test is taken to diagnose Sotos Syndrome, which is a genetic disorder characterized by excessive physical growth during the first years of life. This test analyzes specific genes associated with Sotos Syndrome to identify any mutations or abnormalities that may be causing the symptoms.

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