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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 the report can be obtained for the test Hypomyelination Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Hypomyelination Syndrome Gene Panel

  • Requisition form filled out completely
  • Patient information form
  • Consent form signed by patient or guardian
  • Copy of insurance card
  • Clinical notes or summary
  • Family history form
  • Previous genetic testing results, if applicable

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

  • PLP1 Gene: Normal
  • GJC2 Gene: Normal
  • TUBB4A Gene: Normal
  • TUBB Gene: Normal
  • MAG Gene: Normal
  • STMN2 Gene: Normal

What does this test Hypomyelination Syndrome Gene Panel identify?

  • This test identifies mutations in genes associated with hypomyelination syndrome, a group of neurological disorders characterized by abnormal myelination of nerve fibers in the central nervous system.
  • The panel includes genes such as PLP1, GJC2, POLR3A, POLR3B, and TUBB4A, among others, which are known to be involved in the development and maintenance of myelin sheaths.
  • Identifying mutations in these genes can help diagnose specific subtypes of hypomyelination syndrome and guide treatment and management strategies for affected individuals.

Why is this test Hypomyelination Syndrome Gene Panel taken?

This test, the Hypomyelination Syndrome Gene Panel, is taken to identify mutations in genes that are associated with hypomyelination syndromes. These syndromes are characterized by abnormal development of myelin, the protective covering of nerve fibers in the brain and spinal cord. Mutations in certain genes can lead to impaired myelination, resulting in symptoms such as developmental delays, motor problems, and cognitive impairment.

By analyzing a panel of genes known to be involved in hypomyelination syndromes, this test can help in diagnosing the underlying genetic cause of the condition in individuals who present with symptoms suggestive of these disorders. This information can be crucial for appropriate management and treatment planning for affected individuals.

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