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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

Maximum days for report: 21 days

What are the prerequisites for the test Charcot Marie Tooth & Sensory Neuropathies Gene Panel

  • Patients must have a suspected diagnosis of Charcot Marie Tooth (CMT) or sensory neuropathies.
  • A detailed clinical history and examination should be performed prior to testing.
  • Family history should be documented, as CMT can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
  • Other causes of neuropathy should be ruled out before genetic testing is pursued.
  • Informed consent must be obtained from the patient or their legal guardian before testing.

What are the measure values for the test Charcot Marie Tooth & Sensory Neuropathies Gene Panel

  • Charcot Marie Tooth & Sensory Neuropathies Gene Panel
  • Measure Values:
    • Gene testing for mutations in CMT-related genes
    • Sequencing of coding regions and splice sites
    • Deletion/duplication analysis for select genes
    • Comprehensive analysis of genes associated with CMT and sensory neuropathies

What does this test Charcot Marie Tooth & Sensory Neuropathies Gene Panel identify?

  • Charcot Marie Tooth & Sensory Neuropathies Gene Panel identifies mutations in genes associated with Charcot Marie Tooth (CMT) disease and other sensory neuropathies.
  • These genes include but are not limited to: MPZ, GJB1, PMP22, MFN2, GDAP1, and SH3TC2.
  • The test helps in diagnosing and confirming CMT and sensory neuropathies, which are inherited disorders affecting the peripheral nerves.
  • Identifying specific genetic mutations can help determine the subtype of CMT or sensory neuropathy, guide treatment decisions, and provide information about prognosis and risk of transmission to offspring.
  • Overall, the gene panel test provides valuable information for personalized management and genetic counseling for individuals with suspected CMT or sensory neuropathies.

Why is this test Charcot Marie Tooth & Sensory Neuropathies Gene Panel taken?

Reasons for taking the Charcot Marie Tooth & Sensory Neuropathies Gene Panel Test

There are several reasons why someone may undergo the Charcot Marie Tooth & Sensory Neuropathies Gene Panel Test:

  1. Diagnosis: The test can help confirm a diagnosis of Charcot Marie Tooth disease or other sensory neuropathies by identifying specific genetic mutations.
  2. Genetic Counseling: The test results can provide important information for family members about their risk of inheriting the condition.
  3. Prognosis: Knowing the specific genetic mutations can help predict the severity and progression of the disease in an individual.
  4. Treatment Planning: Understanding the genetic cause of the condition can help guide treatment options and management strategies.
  5. Research Studies: Participation in research studies or clinical trials may require genetic testing to identify specific mutations associated with Charcot Marie Tooth disease.

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