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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 the report of the Bartter Syndrome Gene Panel test is 21 days.

What are the prerequisites for the test Bartter Syndrome Gene Panel

  • Written informed consent is required from the patient or legal guardian prior to testing.
  • Minimum volume of 2 mL of blood in a lavender-top (EDTA) tube is required for DNA extraction.
  • Patient must be suspected of having Bartter Syndrome based on clinical symptoms and laboratory findings.
  • Relevant medical history and family history should be provided for accurate interpretation of results.

What are the measure values for the test Bartter Syndrome Gene Panel

Gene Measure Value
SLC12A1 0.5-1.5
KCNJ1 0.8-1.2
CLCNKB 0.7-1.3
BSND 0.6-1.4

What does this test Bartter Syndrome Gene Panel identify?

  • Bartter Syndrome Gene Panel identifies mutations in genes associated with Bartter Syndrome, a group of rare kidney disorders characterized by an imbalance of electrolytes in the body.
  • Genes tested in this panel include SLC12A1, KCNJ1, CLCNKB, BSND, and SLC12A3.
  • These genes play a crucial role in the regulation of salt transport in the kidneys, and mutations in any of these genes can lead to electrolyte imbalances, causing symptoms such as muscle weakness, fatigue, excessive urination, and dehydration.
  • Identifying mutations in these genes can help confirm a diagnosis of Bartter Syndrome and guide treatment decisions.

Why is this test Bartter Syndrome Gene Panel taken?

The Bartter Syndrome Gene Panel test is taken to diagnose Bartter syndrome, a rare genetic disorder that affects the kidneys. This test helps identify mutations in specific genes that are associated with Bartter syndrome, allowing for a more accurate diagnosis and appropriate treatment plan. Bartter syndrome is characterized by an imbalance of electrolytes in the body, leading to symptoms such as muscle weakness, dehydration, and kidney dysfunction. Early detection through genetic testing can help in managing the condition and improving quality of life for individuals with Bartter syndrome.

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