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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 Primary Hyperoxaluria Gene Panel is typically 14-21 business days from the date the sample is received by the laboratory.

What are the prerequisites for the test Primary Hyperoxaluria Gene Panel

  • Patients with suspected Primary Hyperoxaluria
  • Clinical symptoms consistent with Primary Hyperoxaluria
  • Family history of Primary Hyperoxaluria
  • Renal stones that are predominantly composed of oxalate
  • Elevated urinary oxalate excretion
  • Absence of secondary causes of hyperoxaluria

What are the measure values for the test Primary Hyperoxaluria Gene Panel

  • AGXT Gene Analysis: Positive or Negative
  • GRHPR Gene Analysis: Positive or Negative
  • HOGA1 Gene Analysis: Positive or Negative

What does this test Primary Hyperoxaluria Gene Panel identify?

  • This test identifies mutations in the AGXT, GRHPR, and HOGA1 genes.
  • These genes are associated with primary hyperoxaluria, a rare genetic disorder characterized by the overproduction of oxalate.
  • Primary hyperoxaluria can lead to the formation of kidney stones, kidney damage, and other serious complications.
  • Identifying mutations in these genes can help confirm a diagnosis of primary hyperoxaluria and guide treatment decisions.

Why is this test Primary Hyperoxaluria Gene Panel taken?

Primary Hyperoxaluria Gene Panel Test

The Primary Hyperoxaluria Gene Panel test is taken to diagnose Primary Hyperoxaluria, a rare genetic disorder that causes the overproduction of a substance called oxalate. This excess oxalate can build up in the kidneys and other organs, leading to kidney stones, kidney damage, and other serious complications.

The gene panel test specifically looks for mutations in genes associated with Primary Hyperoxaluria, such as AGXT, GRHPR, and HOGA1. Identifying these mutations can help healthcare providers confirm a diagnosis of Primary Hyperoxaluria and determine the best course of treatment for the individual.

Overall, the Primary Hyperoxaluria Gene Panel test is crucial for accurately diagnosing and managing this rare genetic disorder, as early detection and intervention can help prevent or minimize its potentially severe consequences.

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