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Parameters

Reports Within:

Parameter Include:

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 the report can be obtained for the test Congenital Adrenal Hyperplasia (CAH) MLPA Test is 10 days.

What are the prerequisites for the test Congenital Adrenal Hyperplasia (CAH) MLPA Test

  • Sample: Minimum 2 mL of peripheral blood in EDTA tube
  • Requisition form with detailed clinical history and family history
  • Consent form signed by the patient or guardian

What are the measure values for the test Congenital Adrenal Hyperplasia (CAH) MLPA Test

  • Deletion of exons 1-8: < 0.7
  • Deletion of exons 1-6: < 0.4
  • Deletion of exons 1-3: < 0.3
  • Deletion of exons 1-2: < 0.2
  • Deletion of exons 3-6: < 0.3
  • Deletion of exons 3-8: < 0.6
  • Deletion of exon 3: < 0.2
  • Deletion of exon 6: < 0.2
  • Deletion of exon 8: < 0.3
  • Duplication of exons 1-8: > 1.3
  • Duplication of exons 1-6: > 1.9
  • Duplication of exons 1-3: > 1.6
  • Duplication of exons 1-2: > 1.4
  • Duplication of exons 3-6: > 1.8
  • Duplication of exons 3-8: > 1.7
  • Duplication of exon 3: > 1.2
  • Duplication of exon 6: > 1.4
  • Duplication of exon 8: > 1.7

What does this test Congenital Adrenal Hyperplasia (CAH) MLPA Test identify?

  • Congenital Adrenal Hyperplasia (CAH) MLPA Test identifies genetic abnormalities in the genes associated with Congenital Adrenal Hyperplasia (CAH).
  • This test specifically looks for deletions, duplications, or other rearrangements in the genes involved in the production of adrenal hormones.
  • CAH is a group of inherited disorders that affect the adrenal glands and can result in hormone imbalances, particularly of cortisol and aldosterone.
  • By identifying genetic abnormalities associated with CAH, this test can help diagnose the condition, predict its severity, and guide treatment decisions.

Why is this test Congenital Adrenal Hyperplasia (CAH) MLPA Test taken?

  • What is Congenital Adrenal Hyperplasia (CAH) MLPA Test?

    • The Congenital Adrenal Hyperplasia (CAH) MLPA Test is a genetic test that is used to diagnose a group of inherited disorders that affect the adrenal glands. CAH is caused by mutations in genes that are involved in the production of hormones that regulate various bodily functions, including metabolism, immune response, and stress response.

  • Why is the test taken?

    • The CAH MLPA Test is taken to confirm a diagnosis of CAH in individuals who are showing symptoms of the disorder. Symptoms of CAH can vary depending on the specific type of CAH and may include abnormal genitalia in females, early puberty, growth acceleration, excessive body hair, and salt-wasting. The test can also be used for carrier testing in family members of individuals with CAH.

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