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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 test Leber Congenital Amaurosis (LCA) Gene Panel is 21 days.

What are the prerequisites for the test Leber Congenital Amaurosis (LCA) Gene Panel

  • Consultation with a genetic counselor or healthcare provider to discuss the testing process, potential outcomes, and implications of the results
  • Confirmation of clinical diagnosis of Leber Congenital Amaurosis (LCA) based on symptoms and ophthalmological examination findings
  • Consent for genetic testing from the individual undergoing testing or their legal guardian
  • Submission of a blood or saliva sample for DNA analysis
  • Payment or insurance coverage for the cost of the test

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

  • Gene Panel: Leber Congenital Amaurosis (LCA)
  • Measures:
    • AIPL1 Gene Analysis
    • CNGA1 Gene Analysis
    • CRB1 Gene Analysis
    • GUCY2D Gene Analysis
    • LRAT Gene Analysis
    • NPHP4 Gene Analysis
    • RPE65 Gene Analysis
    • SPATA7 Gene Analysis
    • TULP1 Gene Analysis
    • CEP290 Gene Analysis
    • IMPDH1 Gene Analysis
    • LCA5 Gene Analysis
    • RDH12 Gene Analysis
    • RPGRIP1 Gene Analysis

What does this test Leber Congenital Amaurosis (LCA) Gene Panel identify?

  • Leber Congenital Amaurosis (LCA) Gene Panel identifies mutations in genes associated with LCA, a rare inherited eye disorder that primarily affects the retina.
  • It helps in confirming a diagnosis of LCA in individuals with suspected symptoms, such as severe vision loss or blindness from birth or early infancy.
  • The gene panel may include analysis of genes like GUCY2D, CRB1, RPGRIP1, AIPL1, and others that are known to be involved in the development and function of the retina.
  • Identifying specific mutations in these genes can help in providing a more accurate prognosis, genetic counseling, and potential treatment options for individuals with LCA.

Why is this test Leber Congenital Amaurosis (LCA) Gene Panel taken?

  1. Leber Congenital Amaurosis (LCA) is a rare genetic disorder that affects the retina, causing severe vision loss or blindness from birth.
  2. The LCA Gene Panel test is taken to identify genetic mutations associated with LCA, which can help in confirming a diagnosis and guiding treatment options.
  3. Early detection of LCA through genetic testing can also help in genetic counseling for families at risk of passing on the condition to future generations.
  4. Furthermore, knowing the specific genetic mutations causing LCA can aid in the development of targeted therapies and personalized treatment plans for affected individuals.

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