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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 Johanson-Blizzard Syndrome (JBS) Gene Analysis is typically 14 days.

What are the prerequisites for the test Johanson-Blizzard Syndrome (JBS) Gene Analysis

  • Written consent for genetic testing
  • Complete the test requisition form
  • Provide a detailed medical and family history
  • Provide a copy of the patient's insurance information
  • Provide a copy of the patient's identification

What are the measure values for the test Johanson-Blizzard Syndrome (JBS) Gene Analysis

  1. Presence or absence of mutations in the UBR1 gene
  2. Identification of specific mutations in the UBR1 gene
  3. Confirmation of diagnosis in individuals with clinical suspicion of JBS
  4. Genetic counseling for affected individuals and their families

What does this test Johanson-Blizzard Syndrome (JBS) Gene Analysis identify?

  • Johanson-Blizzard Syndrome (JBS) Gene Analysis: This test identifies mutations in the UBR1 gene, which are associated with Johanson-Blizzard Syndrome (JBS). JBS is a rare genetic disorder that affects multiple systems in the body, including the pancreas, intestines, and skeletal system. Symptoms of JBS can vary widely, but may include intellectual disability, growth delays, hearing loss, and abnormalities of the fingers and toes. Identifying mutations in the UBR1 gene can help confirm a diagnosis of JBS and guide treatment and management decisions.

Why is this test Johanson-Blizzard Syndrome (JBS) Gene Analysis taken?

The test for Johanson-Blizzard Syndrome (JBS) Gene Analysis is taken to diagnose individuals suspected to have JBS. JBS is a rare genetic disorder characterized by a variety of physical abnormalities and intellectual disabilities. The gene analysis helps in identifying mutations in the UBR1 gene which is responsible for causing JBS. This test can help confirm a clinical diagnosis, guide treatment options, and provide information for genetic counseling.

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