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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 Retinoblastoma (RB1) Deletion/Duplication Analysis Test is 14 days.

What are the prerequisites for the test Retinoblastoma (RB1) Deletion/Duplication Analysis Test

  • Patient must have a suspected or confirmed diagnosis of retinoblastoma
  • Written informed consent from the patient or legal guardian
  • Complete clinical history and family history provided
  • Results of previous genetic testing, if applicable
  • Any relevant medical records or imaging studies

What are the measure values for the test Retinoblastoma (RB1) Deletion/Duplication Analysis Test

  • Test Name: Retinoblastoma (RB1) Deletion/Duplication Analysis Test
  • Method: Polymerase Chain Reaction (PCR) and Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Specimen: Blood or tissue sample
  • Turnaround Time: 2-4 weeks
  • Normal Range: No deletion or duplication detected in the RB1 gene
  • Abnormal Results: Deletion or duplication detected in the RB1 gene, indicating a risk for retinoblastoma

What does this test Retinoblastoma (RB1) Deletion/Duplication Analysis Test identify?

  • This test identifies mutations in the RB1 gene that can lead to the development of Retinoblastoma, a rare eye cancer that primarily affects young children.
  • The test detects deletions or duplications in the RB1 gene, which can disrupt the normal function of the gene and increase the risk of developing Retinoblastoma.
  • Identifying these mutations can help in diagnosing individuals with a predisposition to Retinoblastoma, allowing for earlier detection and treatment of the disease.
  • This test is particularly important for individuals with a family history of Retinoblastoma or other related cancers, as they may have an increased risk of carrying RB1 gene mutations.

Why is this test Retinoblastoma (RB1) Deletion/Duplication Analysis Test taken?

  • Retinoblastoma (RB1) Deletion/Duplication Analysis Test is taken to diagnose retinoblastoma, a rare cancer that develops in the retina of the eye.
  • This test is recommended for individuals with a family history of retinoblastoma or those showing symptoms such as abnormal eye reflections, crossed eyes, or vision problems.
  • The test helps in identifying genetic mutations in the RB1 gene, which plays a crucial role in the development of retinoblastoma.
  • Detection of RB1 gene mutations can provide valuable information for early diagnosis, treatment planning, and genetic counseling for individuals and families at risk.

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