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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

Maximum Days for Report:

The report for the Connexin 30 Mutation Detection Test can be obtained within 7-10 business days from the date of sample collection.

What are the prerequisites for the test Connexin 30 Mutation Detection Test

  • Patients must have a suspected or confirmed diagnosis of a connexin 30 mutation-related disorder
  • A blood or saliva sample from the patient is required for testing
  • Patient must not have received a bone marrow transplant
  • Patient must not have a history of malignancy
  • Patient must not have received recent blood transfusions

What are the measure values for the test Connexin 30 Mutation Detection Test

  • Sensitivity: 99%
  • Specificity: 98%
  • Positive Predictive Value: 95%
  • Negative Predictive Value: 99%

What does this test Connexin 30 Mutation Detection Test identify?

  • This test identifies mutations in the Connexin 30 gene.
  • Connexin 30 is a protein that forms gap junctions in the inner ear and plays a crucial role in hearing and balance.
  • Mutations in the Connexin 30 gene can lead to hearing loss and balance problems.
  • The Connexin 30 Mutation Detection Test helps in diagnosing genetic disorders related to hearing loss and balance issues caused by mutations in this gene.

Why is this test Connexin 30 Mutation Detection Test taken?

The Connexin 30 Mutation Detection Test is taken to detect mutations in the Connexin 30 gene. Mutations in this gene can lead to various disorders such as sensorineural hearing loss, skin disorders, and other conditions affecting the nervous system.

By identifying mutations in the Connexin 30 gene, healthcare providers can better understand the underlying cause of a patient's symptoms and tailor treatment options accordingly. This test is especially important for individuals with a family history of genetic disorders or those who are experiencing unexplained hearing loss or skin problems.

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