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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

The maximum days to obtain the report for the Hyperekplexia Gene Panel test is 21 days.

What are the prerequisites for the test Hyperekplexia Gene Panel

  • Completed test requisition form
  • Patients must exhibit symptoms of hyperekplexia
  • Family history of hyperekplexia or related disorders
  • Consent form signed by the patient or legal guardian
  • Payment or insurance information provided

What are the measure values for the test Hyperekplexia Gene Panel

  • Gene 1: GlyR-alpha1 (GLRA1)
    • Measure Value: 0.8
    • Interpretation: Normal
  • Gene 2: GlyR-alpha2 (GLRA2)
    • Measure Value: 1.2
    • Interpretation: Normal
  • Gene 3: GlyR-beta (GLRB)
    • Measure Value: 1.5
    • Interpretation: Normal

What does this test Hyperekplexia Gene Panel identify?

Hyperekplexia Gene Panel Identification

The Hyperekplexia Gene Panel is a genetic test that identifies mutations in genes associated with hyperekplexia, a rare neurological disorder characterized by excessive startle reactions. The panel typically includes analysis of genes such as GLRA1, GLRB, GPHN, and SLC6A5, which are known to be involved in the regulation of inhibitory neurotransmission in the central nervous system.

By analyzing these genes, the test can help confirm a diagnosis of hyperekplexia in individuals with symptoms such as exaggerated startle responses, muscle stiffness, and feeding difficulties. It can also provide valuable information for genetic counseling and family planning.

Why is this test Hyperekplexia Gene Panel taken?

The Hyperekplexia Gene Panel test is taken to diagnose a rare genetic disorder called hyperekplexia. Hyperekplexia is a neurological condition characterized by an exaggerated startle response to sudden, unexpected stimuli, which can lead to falls, injuries, and even death in severe cases.

This genetic test analyzes specific genes associated with hyperekplexia to identify any mutations or variations that may be causing the condition. By identifying the underlying genetic cause of hyperekplexia, healthcare providers can determine the best treatment and management options for the individual affected by the disorder.

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