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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 for obtaining the report for the Alpha Mannosidosis Gene Analysis Test is 30 days.

What are the prerequisites for the test Alpha Mannosidosis Gene Analysis Test

  • Identification of clinical suspicion of Alpha Mannosidosis
  • Referral from a healthcare provider
  • Consent form signed by the patient or legal guardian
  • Payment or insurance coverage for the test

What are the measure values for the test Alpha Mannosidosis Gene Analysis Test

  • Alpha Mannosidosis Gene Analysis Test:
    • Measurement Values:
      • Presence of mutations in the MAN2B1 gene
      • Genetic variations associated with alpha mannosidosis
      • Specific DNA changes or deletions in the MAN2B1 gene

What does this test Alpha Mannosidosis Gene Analysis Test identify?

Alpha Mannosidosis Gene Analysis Test

The Alpha Mannosidosis Gene Analysis Test is a genetic test that identifies mutations in the MAN2B1 gene. This gene provides instructions for making an enzyme called alpha-mannosidase, which is involved in breaking down complex sugars in the body. Mutations in the MAN2B1 gene can lead to a deficiency of alpha-mannosidase, causing alpha-mannosidosis.

Alpha-mannosidosis is a rare genetic disorder that affects the body's ability to break down sugars. Symptoms of alpha-mannosidosis can vary widely and may include developmental delays, intellectual disability, skeletal abnormalities, hearing loss, and immune system dysfunction.

The Alpha Mannosidosis Gene Analysis Test can help diagnose alpha-mannosidosis in individuals who are showing symptoms of the disorder. It can also be used for carrier testing in individuals with a family history of alpha-mannosidosis. Early diagnosis of alpha-mannosidosis is important for implementing appropriate treatment and management strategies.

Why is this test Alpha Mannosidosis Gene Analysis Test taken?

Alpha Mannosidosis Gene Analysis Test is taken to diagnose and confirm the presence of alpha-mannosidosis, a rare genetic disorder that affects the body's ability to break down complex sugars. This test is usually recommended when a person presents with symptoms such as developmental delays, intellectual disability, skeletal abnormalities, and recurrent infections.

The test helps in identifying mutations in the MAN2B1 gene, which is responsible for producing an enzyme called alpha-mannosidase. Deficiency of this enzyme leads to the accumulation of mannose-rich oligosaccharides in the body, causing various symptoms associated with alpha-mannosidosis.

Early diagnosis through this genetic test can help in providing appropriate treatment and management strategies to improve the quality of life for individuals with alpha-mannosidosis. It can also help in genetic counseling for families at risk of passing on the disorder to their children.

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