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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 the report can be obtained for the test Aicardi Goutieres Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Aicardi Goutieres Syndrome Gene Panel

  • Patients suspected to have Aicardi Goutieres Syndrome based on clinical features
  • Family history of Aicardi Goutieres Syndrome
  • Written informed consent for genetic testing
  • Complete the test requisition form
  • Provide a blood or saliva sample for genetic analysis

What are the measure values for the test Aicardi Goutieres Syndrome Gene Panel

Measure Value
Gene Panel Name Aicardi Goutieres Syndrome Gene Panel
Number of Genes 7
Number of Variants 75
Coverage 99.5%
Depth of Coverage 100x

What does this test Aicardi Goutieres Syndrome Gene Panel identify?

Aicardi Goutieres Syndrome Gene Panel:

  • This test identifies mutations in genes associated with Aicardi Goutieres Syndrome (AGS).
  • AGS is a rare genetic disorder characterized by severe neurological abnormalities, skin changes, and other systemic features.
  • Genes commonly included in this panel are TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
  • Identifying mutations in these genes can help confirm a diagnosis of AGS and guide treatment and management strategies.

Why is this test Aicardi Goutieres Syndrome Gene Panel taken?

This test for Aicardi Goutieres Syndrome Gene Panel is taken to diagnose or confirm a suspected case of Aicardi Goutieres Syndrome (AGS). AGS is a rare genetic disorder that affects the brain, skin, and immune system. It is characterized by neurological abnormalities, skin changes, and abnormal immune responses.

The test analyzes specific genes known to be associated with AGS to identify any mutations or abnormalities that may be causing the symptoms. This information can help healthcare providers make an accurate diagnosis, determine appropriate treatment options, and provide genetic counseling to affected individuals and their families.

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