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Parameters

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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 the report can be obtained for the Choroideremia Test is 14 days.

What are the prerequisites for the test Choroideremia Test

Prerequisites for the Choroideremia Test

  • Family history of choroideremia
  • Symptoms of vision loss, night blindness, and peripheral vision loss
  • Consultation with a genetic counselor or healthcare provider
  • Consent for genetic testing

What are the measure values for the test Choroideremia Test

  • Visual Acuity: measured in Snellen decimal or LogMAR units
  • Visual Field: measured in degrees of visual field loss
  • Electroretinography (ERG): measured in microvolts (µV) or amplitude ratio
  • Optical Coherence Tomography (OCT): measured in micrometers (µm) for retinal thickness
  • Genetic Testing: results reported as specific genetic mutations or variants

What does this test Choroideremia Test identify?

The Choroideremia Test is a genetic test that identifies mutations in the CHM gene. These mutations are associated with Choroideremia, a rare genetic disorder that primarily affects the retina and leads to progressive vision loss. The test helps in diagnosing individuals with Choroideremia and can also be used for carrier testing in individuals with a family history of the condition. Early identification of Choroideremia through genetic testing allows for appropriate management and treatment of the disease.

Why is this test Choroideremia Test taken?

  1. Genetic counseling: The Choroideremia Test is taken to help individuals and families understand their risk of inheriting this genetic disorder. It provides valuable information for genetic counseling and family planning.
  2. Early detection: Early detection of Choroideremia can help in managing the symptoms and complications associated with the disorder. It allows for timely intervention and treatment to improve quality of life.
  3. Diagnostic confirmation: The test is used to confirm a suspected diagnosis of Choroideremia based on symptoms and clinical findings. It helps in distinguishing Choroideremia from other similar eye conditions.
  4. Research purposes: The test may also be taken as part of research studies to further understand the genetic basis of Choroideremia and develop new treatments or therapies for the disorder.

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