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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 Congenital Cataract Gene Panel test is 21 days.

What are the prerequisites for the test Congenital Cataract Gene Panel

  • Patient must have a suspected or confirmed diagnosis of congenital cataract
  • Requisition form with relevant clinical information
  • Consent form signed by the patient or legal guardian
  • Sample type: blood (3-5 mL in EDTA or PAXgene Blood RNA Tube)
  • Sample must be received within 7 days of collection
  • Shipping conditions: ship at room temperature

What are the measure values for the test Congenital Cataract Gene Panel

  • Gene Panel: Congenital Cataract
  • Measure Values:
    • Alpha-crystallin A (CRYAA) gene mutation
    • Beta-crystallin B2 (CRYBB2) gene mutation
    • Beta-crystallin E (CRYBE) gene mutation
    • Gamma-crystallin C (CRYGC) gene mutation
    • Gamma-crystallin D (CRYGD) gene mutation
    • Heat shock transcription factor 4 (HSF4) gene mutation
    • Lens intrinsic membrane protein 2 (LIM2) gene mutation
    • Lens major intrinsic protein (LIM2) gene mutation
    • MIP (AQP0) gene mutation
    • Major intrinsic protein of lens fiber (MIP) gene mutation
    • Beaded filament structural protein 1 (BFSP1) gene mutation
    • Beaded filament structural protein 2 (BFSP2) gene mutation

What does this test Congenital Cataract Gene Panel identify?

Congenital Cataract Gene Panel Identification

The Congenital Cataract Gene Panel test identifies mutations in specific genes that are associated with congenital cataracts. Cataracts are clouding of the lens in the eye, which can lead to vision impairment or blindness if left untreated. Congenital cataracts are present at birth or develop during childhood.

By analyzing these genes, the test can provide information on the genetic cause of congenital cataracts in an individual. This information can help in diagnosing the condition, determining the appropriate treatment, and assessing the risk of passing on the condition to future generations.

Why is this test Congenital Cataract Gene Panel taken?

The Congenital Cataract Gene Panel test is taken to identify mutations in genes that are associated with congenital cataracts.

Congenital cataracts are present at birth or develop during childhood and can cause clouding of the lens in the eye, leading to vision impairment or blindness.

This test is recommended for individuals who have a family history of congenital cataracts or are suspected to have a genetic predisposition to the condition.

By identifying specific genetic mutations, healthcare providers can better understand the underlying cause of congenital cataracts in an individual and provide appropriate treatment and management strategies.

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