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Laboratory Tests for Neuropathies: What to do and to Avoid.

Corinne G C Horlings1, Jakob Rath2, Josef Finsterer3

  • 1Department of Neurology, Medical University Innsbruck, Austria.

Journal of Neuromuscular Diseases
|April 26, 2020
PubMed
Summary

Ordering laboratory tests for peripheral neuropathies (PNPs) requires careful consideration of patient history, clinical signs, and electrophysiology. Targeted testing avoids unnecessary expenses and aids accurate diagnosis of hereditary and acquired conditions.

Keywords:
Neuropathydiagnosiselectromyographyhereditarynerve conduction

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Area of Science:

  • Neurology
  • Clinical Diagnostics
  • Laboratory Medicine

Background:

  • Peripheral neuropathies (PNPs) encompass a wide range of hereditary and acquired conditions.
  • Diagnostic work-up for PNPs often involves extensive laboratory testing.
  • The critical utilization of these tests by general neurologists is a key concern.

Purpose of the Study:

  • To provide an overview of essential laboratory tests for diagnosing peripheral neuropathies.
  • To guide general neurologists in selecting appropriate investigations for PNP work-up.
  • To emphasize a rational approach to laboratory testing in PNP diagnosis.

Main Methods:

  • Literature search was conducted to identify relevant studies and guidelines.
  • Review focused on common laboratory tests and diagnostic strategies for PNPs.
  • Information synthesized to guide clinical decision-making.

Main Results:

  • Laboratory test selection for PNPs must be guided by patient history, clinical presentation, and electrophysiological findings.
  • A basic screening panel includes blood count, thyroid, renal, liver function, glucose, HbA1c, vitamin B12, and immunofixation.
  • Further investigations are warranted only for specific phenotypes or unexpected disease progression, often requiring referral to a specialized center.

Conclusions:

  • Laboratory tests are valuable tools for diagnosing both acquired and hereditary neuropathies.
  • A tailored approach, based on clinical context, is crucial for effective PNP diagnosis.
  • Referral to neuromuscular disorder centers is recommended when initial investigations are inconclusive.