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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 for obtaining the report for the Leber Congenital Amaurosis Gene Panel test is 10 business days.

What are the prerequisites for the test Leber Congenital Amaurosis Gene Panel

  • Written informed consent is required from the patient or legal guardian prior to testing.
  • For patients under the age of 18, parental consent is required.
  • A completed test requisition form must be submitted along with the patient sample.
  • Patient history and clinical information should be provided to aid in the interpretation of results.

What are the measure values for the test Leber Congenital Amaurosis Gene Panel

Gene Measure Value
GUCY2D Reported pathogenic mutations
RPE65 Reported pathogenic mutations
LRAT Reported pathogenic mutations
CRX Reported pathogenic mutations
CRB1 Reported pathogenic mutations

What does this test Leber Congenital Amaurosis Gene Panel identify?

  • Leber Congenital Amaurosis Gene Panel identifies mutations in genes known to be associated with Leber Congenital Amaurosis (LCA).
  • LCA is a rare genetic disorder that primarily affects the retina, leading to severe vision loss and blindness from birth or early infancy.
  • The panel tests for mutations in genes such as GUCY2D, RPE65, AIPL1, CRB1, and others that have been linked to LCA.
  • Identifying mutations in these genes can help with diagnosis, prognosis, and potentially guide treatment options for individuals with LCA.

Why is this test Leber Congenital Amaurosis Gene Panel taken?

Leber Congenital Amaurosis Gene Panel test is taken to diagnose Leber Congenital Amaurosis (LCA), which is a rare genetic disorder that affects the retina and causes severe vision loss or blindness from birth. This test is important for individuals who have symptoms of LCA, such as poor night vision, sensitivity to light, and involuntary eye movements, as it helps in identifying the specific genetic mutations responsible for the condition. By identifying the genetic mutations, healthcare providers can provide appropriate management and treatment options for LCA patients.

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