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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

Pseudohypoaldosteronism Gene Panel Test

The report for the Pseudohypoaldosteronism Gene Panel test can be obtained within a maximum of 14 days from the date of sample collection.

What are the prerequisites for the test Pseudohypoaldosteronism Gene Panel

  • Confirmation of clinical diagnosis of pseudohypoaldosteronism
  • Family history of pseudohypoaldosteronism
  • Consultation with a clinical geneticist
  • Written informed consent for genetic testing
  • Complete the test requisition form

What are the measure values for the test Pseudohypoaldosteronism Gene Panel

  • ACTH (Adrenocorticotropic Hormone) stimulation test
  • Plasma renin activity levels
  • Serum electrolyte levels (sodium, potassium, chloride)
  • Genetic testing for mutations in genes related to pseudohypoaldosteronism

What does this test Pseudohypoaldosteronism Gene Panel identify?

Pseudohypoaldosteronism Gene Panel

This test identifies mutations in genes associated with pseudohypoaldosteronism, a rare genetic disorder that affects the body's regulation of electrolytes and fluid balance. The panel includes analysis of genes such as SCNN1A, SCNN1B, SCNN1G, NR3C2, and KLHL3, which play key roles in sodium and potassium balance in the body.

Why is this test Pseudohypoaldosteronism Gene Panel taken?

Reasons for Taking Pseudohypoaldosteronism Gene Panel Test:

Pseudohypoaldosteronism is a rare genetic condition that affects the body's ability to regulate salt levels. The gene panel test is taken to identify mutations in specific genes that are associated with this condition. Some of the common reasons for taking this test include:

  • Confirmation of diagnosis in individuals showing symptoms of pseudohypoaldosteronism
  • Genetic counseling for individuals with a family history of the condition
  • Guiding treatment decisions, as the specific genetic mutations can influence the choice of therapy
  • Understanding the risk of passing on the condition to future generations

The gene panel test analyzes multiple genes simultaneously, providing a comprehensive assessment of genetic factors contributing to pseudohypoaldosteronism. Results from the test can help healthcare providers tailor management strategies for individuals affected by this condition.

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