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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 test Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test is typically 14-21 days. The exact turnaround time may vary depending on the specific laboratory and testing facility.

What are the prerequisites for the test Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test

  • Confirmation of clinical suspicion of GLUT1 deficiency
  • Referral from a healthcare provider
  • Consent form signed by the patient or legal guardian

What are the measure values for the test Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test

  • Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test
  • Measure Values:
    • Gene Analysis for SLC2A1 gene mutations
    • Genetic testing for GLUT1 deficiency
    • Determination of mutations in the SLC2A1 gene
    • Confirmation of diagnosis in individuals suspected of having GLUT1 deficiency

What does this test Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test identify?

  • This test identifies mutations in the Glucose Transporter Type 1 (GLUT1) gene.
  • GLUT1 deficiency is a rare genetic disorder that affects the brain's ability to transport glucose across the blood-brain barrier.
  • Individuals with GLUT1 deficiency may experience symptoms such as seizures, developmental delay, movement disorders, and intellectual disability.
  • Identifying mutations in the GLUT1 gene can help diagnose patients with GLUT1 deficiency and guide treatment strategies.

Why is this test Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test taken?

Glucose Transporter Type 1 (GLUT1) Deficiency Gene Analysis Test is taken to diagnose GLUT1 deficiency syndrome, a rare genetic disorder that affects the brain's ability to use glucose for energy. This test is usually recommended for individuals who have symptoms of the disorder, such as seizures, developmental delay, movement disorders, and low blood sugar levels.

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