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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 Sjogren Larsson syndrome (SLS) Test is 7-10 business days.

What are the prerequisites for the test Sjogren Larsson syndrome (SLS) Test

  • Confirmation of clinical suspicion of Sjogren Larsson syndrome by a healthcare provider
  • Family history of Sjogren Larsson syndrome or related conditions
  • Availability of a laboratory that offers genetic testing for Sjogren Larsson syndrome
  • Consent from the individual or legal guardian for genetic testing
  • Proper pre-test counseling to understand the implications of the test results

What are the measure values for the test Sjogren Larsson syndrome (SLS) Test

  • Measure Name: Sjogren Larsson syndrome (SLS) Test
  • Measure Type: Diagnostic
  • Measure Values:
    • Positive: Presence of characteristic clinical features and confirmation of deficiency in fatty aldehyde dehydrogenase (FALDH) enzyme activity
    • Negative: Absence of characteristic clinical features and normal FALDH enzyme activity

What does this test Sjogren Larsson syndrome (SLS) Test identify?

Sjogren Larsson syndrome (SLS) Test

The Sjogren Larsson syndrome (SLS) Test is a diagnostic test that identifies the presence of Sjogren Larsson syndrome in an individual. SLS is a rare genetic disorder characterized by a triad of symptoms including ichthyosis (a skin condition causing dry, scaly skin), spasticity (stiff or rigid muscles), and intellectual disability.

The test typically involves genetic testing to identify mutations in the ALDH3A2 gene, which is responsible for encoding the enzyme fatty aldehyde dehydrogenase. Mutations in this gene lead to a deficiency in the enzyme, causing the symptoms associated with SLS.

By identifying mutations in the ALDH3A2 gene, the SLS Test can confirm a diagnosis of Sjogren Larsson syndrome and help healthcare providers develop a treatment plan that addresses the specific symptoms and needs of the individual.

Why is this test Sjogren Larsson syndrome (SLS) Test taken?

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The Sjogren Larsson syndrome (SLS) Test is taken to diagnose Sjogren Larsson syndrome, a rare genetic disorder characterized by a triad of symptoms including congenital ichthyosis (dry, scaly skin), spasticity (stiff or tight muscles), and intellectual disability. The test helps in confirming the presence of mutations in the ALDH3A2 gene, which is responsible for encoding the enzyme fatty aldehyde dehydrogenase. Deficiency of this enzyme leads to the accumulation of fatty aldehydes in the body, causing the characteristic symptoms of SLS.

Early diagnosis of Sjogren Larsson syndrome is important for initiating appropriate treatment and management strategies to address the symptoms and improve quality of life. The test may be recommended by healthcare providers if there is a suspicion of SLS based on clinical symptoms and family history.

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