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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 Pallister Hall Syndrome (PHS) Gene Analysis Test is typically 14-21 days from the date the sample is received by the laboratory.

What are the prerequisites for the test Pallister Hall Syndrome (PHS) Gene Analysis Test

  • Patient must have symptoms suggestive of Pallister Hall Syndrome (PHS)
  • Referral from a healthcare provider is required
  • Consent form must be signed by the patient or guardian
  • Health insurance information may be needed

What are the measure values for the test Pallister Hall Syndrome (PHS) Gene Analysis Test

  • Gene Analysis Test Name: Pallister Hall Syndrome (PHS) Gene Analysis Test
  • Measure Values:
    • Test Sensitivity: 95%
    • Test Specificity: 98%
    • Positive Predictive Value (PPV): 90%
    • Negative Predictive Value (NPV): 99%
    • Accuracy: 96%

What does this test Pallister Hall Syndrome (PHS) Gene Analysis Test identify?

  • Pallister Hall Syndrome (PHS) Gene Analysis Test
  • This test identifies mutations in the GLI3 gene that are associated with Pallister Hall Syndrome (PHS).
  • Pallister Hall Syndrome is a rare genetic disorder characterized by a wide range of symptoms including extra fingers or toes, malformations of the head and face, and other developmental abnormalities.
  • The test helps in diagnosing individuals with PHS and can aid in genetic counseling and appropriate medical management.

Why is this test Pallister Hall Syndrome (PHS) Gene Analysis Test taken?

The Pallister Hall Syndrome (PHS) Gene Analysis Test is taken to diagnose Pallister Hall Syndrome, a rare genetic disorder that affects multiple parts of the body. This test is usually recommended if a person is showing symptoms of PHS, such as abnormalities in the development of the face, hands, or genitals, as well as intellectual disability and other health issues.

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