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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

Maximum days for report: 14 days

What are the prerequisites for the test Urea Cycle Defects Gene Panel

  • Patients with suspected urea cycle defects
  • Patients with hyperammonemia
  • Patients with unexplained encephalopathy or coma
  • Patients with abnormal liver function tests
  • Patients with a family history of urea cycle defects

What are the measure values for the test Urea Cycle Defects Gene Panel

  • Ornithine transcarbamylase deficiency: 0-3.4 nmol/min/mg protein
  • Citrullinemia type I (ASS1 deficiency): 0-0.2 nmol/min/mg protein
  • Argininosuccinic aciduria (ASL deficiency): 0-0.4 nmol/min/mg protein
  • Argininemia (ARG1 deficiency): 0-0.3 nmol/min/mg protein
  • Citrullinemia type II (CITRIN deficiency): 0-0.25 nmol/min/mg protein

What does this test Urea Cycle Defects Gene Panel identify?

  • Argininosuccinate Lyase Deficiency
  • Argininosuccinate Synthetase Deficiency
  • Arginase Deficiency
  • Citrin Deficiency
  • Citrullinemia Type I
  • N-Acetylglutamate Synthase Deficiency
  • Ornithine Transcarbamylase Deficiency

Why is this test Urea Cycle Defects Gene Panel taken?

Urea Cycle Defects Gene Panel is taken to diagnose and assess genetic mutations that affect the urea cycle, a series of biochemical reactions in the liver that convert ammonia into urea. Defects in the urea cycle can lead to hyperammonemia, a condition characterized by high levels of ammonia in the blood, which can be toxic to the brain and other organs. This test is particularly important for individuals who present with symptoms of hyperammonemia, such as confusion, vomiting, and seizures, as well as for newborns who fail to thrive or have developmental delays.

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