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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 Alstrom Syndrome (ALMS1) Gene Analysis Test is typically 21 days. However, this timeframe may vary depending on the specific laboratory conducting the test and their processing times.

What are the prerequisites for the test Alstrom Syndrome (ALMS1) Gene Analysis Test

  • Physician order
  • Completed Test Requisition Form
  • Patients must meet clinical diagnostic criteria for Alstrom Syndrome
  • Family history of Alstrom Syndrome may be required
  • Consent form signed by the patient or guardian
  • Payment or insurance information

What are the measure values for the test Alstrom Syndrome (ALMS1) Gene Analysis Test

  • Test Name: Alstrom Syndrome (ALMS1) Gene Analysis Test
  • Measure Values:
    • ALMS1 Gene Mutation Present
    • ALMS1 Gene Mutation Absent

What does this test Alstrom Syndrome (ALMS1) Gene Analysis Test identify?

This test identifies mutations in the ALMS1 gene, which is associated with Alstrom Syndrome. Alstrom Syndrome is a rare genetic disorder that affects multiple organ systems, including the eyes, ears, heart, and kidneys. Symptoms of Alstrom Syndrome can include vision and hearing loss, obesity, diabetes, and heart failure. By analyzing the ALMS1 gene, this test can help diagnose individuals with Alstrom Syndrome and guide treatment and management of the condition.

Why is this test Alstrom Syndrome (ALMS1) Gene Analysis Test taken?

The Alstrom Syndrome (ALMS1) Gene Analysis Test is taken to diagnose Alstrom Syndrome, a rare genetic disorder that affects multiple organs and systems in the body. This test specifically looks for mutations in the ALMS1 gene, which is responsible for producing a protein involved in ciliary function and intracellular transport.

People suspected to have Alstrom Syndrome may undergo this test if they exhibit symptoms such as obesity, vision and hearing problems, heart and liver issues, and insulin resistance. The test helps confirm a diagnosis of Alstrom Syndrome and can aid in guiding treatment and management strategies for affected individuals.

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