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Reports Within:

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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 Fanconi Bickel Syndrome Gene Analysis Test is 21 days.

What are the prerequisites for the test Fanconi Bickel Syndrome Gene Analysis Test

  • Patient must have symptoms suggestive of Fanconi Bickel Syndrome
  • Written consent for genetic testing from the patient or guardian
  • Completed test requisition form
  • Specimen requirements:
    • 2-5 mL of peripheral blood in EDTA tube
    • Alternatively, 10 µg of purified DNA

What are the measure values for the test Fanconi Bickel Syndrome Gene Analysis Test

  • Glucose levels in blood and urine
  • Galactose levels in blood and urine
  • Fructose levels in blood and urine
  • Phosphorus levels in blood
  • Electrolyte levels in blood
  • Genetic testing for mutations in the SLC2A2 gene

What does this test Fanconi Bickel Syndrome Gene Analysis Test identify?

  • The Fanconi Bickel Syndrome Gene Analysis Test identifies mutations in the SLC2A2 gene, which is responsible for encoding the glucose transporter protein GLUT2.
  • This test is used to diagnose Fanconi Bickel Syndrome, a rare genetic disorder characterized by the inability to properly transport glucose and galactose in the body.
  • Individuals with mutations in the SLC2A2 gene may experience symptoms such as hypoglycemia, growth retardation, hepatomegaly, and rickets.
  • Early detection of mutations in the SLC2A2 gene through this test can help in the management and treatment of Fanconi Bickel Syndrome.

Why is this test Fanconi Bickel Syndrome Gene Analysis Test taken?

Reason for Fanconi Bickel Syndrome Gene Analysis Test

Reason for Fanconi Bickel Syndrome Gene Analysis Test

The Fanconi Bickel Syndrome Gene Analysis Test is taken to diagnose Fanconi Bickel Syndrome, a rare genetic disorder that affects the body's ability to transport sugars and other molecules. This test is specifically used to identify mutations in the SLC2A2 gene, which is responsible for encoding a protein involved in glucose transport.

Individuals suspected of having Fanconi Bickel Syndrome may undergo this genetic test to confirm the diagnosis and determine the specific genetic mutation causing the disorder. Early detection through genetic testing can help in implementing appropriate treatment and management strategies to improve the patient's quality of life.

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