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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 to obtain the report for the Xanthinuria Gene Panel test is 14 days.

What are the prerequisites for the test Xanthinuria Gene Panel

Prerequisites for the Xanthinuria Gene Panel Test:

  • Doctor's order for the test
  • Patient's informed consent
  • Patient's detailed medical history
  • Patient's blood or saliva sample
  • Payment or insurance information

What are the measure values for the test Xanthinuria Gene Panel

  • XDH Gene Analysis: 0.1 - 8.9 nmol/min/mg protein
  • NUBPL Gene Analysis: 0.1 - 8.9 nmol/min/mg protein
  • MOCOS Gene Analysis: 0.1 - 8.9 nmol/min/mg protein

What does this test Xanthinuria Gene Panel identify?

Xanthinuria Gene Panel Identification

  • This test identifies mutations in genes associated with xanthinuria, a rare genetic disorder that affects the metabolism of purines.
  • The genes included in the panel are XDH, MOCOS, and UMPS, which are known to be involved in the breakdown of purines in the body.
  • Xanthinuria can lead to the accumulation of xanthine and hypoxanthine in the urine, which can result in kidney stones, kidney damage, and other complications.
  • Identifying mutations in these genes can help diagnose xanthinuria and guide treatment decisions for affected individuals.

Why is this test Xanthinuria Gene Panel taken?

  1. The Xanthinuria Gene Panel test is taken to detect mutations in genes associated with xanthinuria, a rare genetic disorder that affects the metabolism of purines.
  2. Individuals with xanthinuria are unable to properly break down purines, leading to the accumulation of xanthine and/or hypoxanthine in the body.
  3. These elevated levels of xanthine and/or hypoxanthine can lead to the formation of kidney stones, joint pain, and other symptoms associated with xanthinuria.
  4. Identifying mutations in the genes responsible for xanthinuria can help in diagnosing the condition, guiding treatment decisions, and providing genetic counseling to affected individuals and their families.

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