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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 Citrullinemia Gene Panel test is typically 10-14 days.

What are the prerequisites for the test Citrullinemia Gene Panel

  • Requisition form filled out completely
  • Patients must be on a stable diet for at least 48 hours prior to testing
  • Patients should not have received a blood transfusion in the last 3 months
  • Patients should not have received recent chemotherapy or radiation therapy

What are the measure values for the test Citrullinemia Gene Panel

  • Argininosuccinate synthetase (ASS) gene
  • Argininosuccinate lyase (ASL) gene
  • Citrullinemia type I (ASL) gene
  • Citrullinemia type II (ASS) gene
  • Solute carrier family 25 member 15 (SLC25A15) gene

What does this test Citrullinemia Gene Panel identify?

The Citrullinemia Gene Panel is a genetic test that identifies mutations in specific genes associated with citrullinemia, a rare inherited metabolic disorder. This test specifically looks for mutations in the ASS1, SLC25A13, and SLC25A15 genes. Mutations in these genes can lead to deficiencies in enzymes involved in the urea cycle, resulting in the accumulation of ammonia in the blood.

Why is this test Citrullinemia Gene Panel taken?

The Citrullinemia Gene Panel test is taken to detect mutations in genes associated with citrullinemia, a rare genetic disorder that affects the body's ability to break down the amino acid citrulline. This test is usually recommended for individuals who have symptoms of citrullinemia, such as ammonia build-up in the blood, lethargy, poor feeding, and seizures. The test can help confirm a diagnosis of citrullinemia and guide treatment decisions.

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