Peripheral Neuropathy

Peripheral neuropathies are diseases or conditions that affect the peripheral nerves, causing numbness, pain, weakness, and cramping. They may be caused by gene mutations, toxin or drug exposure, physical trauma, or inflammation. Athena Diagnostics offers testing for both genetic and autoimmune peripheral neuropathies.

Testing for Genetic and Immunologic Causes of Peripheral Neuropathy

Athena Diagnostics offers two diagnostic algorithms to streamline the genetic diagnosis of Charcot-Marie-Tooth (CMT) disease.

  • Clinical Algorithm: Athena Diagnostics offers CMT Advanced Evaluations organized by inheritance pattern (dominant, recessive, or unknown) and electrodiagnostic workup (demyelinating, axonal, or inconclusive). For patients with a dominant, demyelinating, or unclear presentation, we offer a PMP22 duplication/deletion reflex to the full panel.
  • Prevalence Algorithm: Recent studies have shown that mutations in four genes (PMP22, MPZ, MFN2, GJB1) account for 90-95% of genetically confirmed CMT (DiVincenzo C et al., Murphy SM et al.). Athena Diagnostics' CMT Initial Genetic Assessment can test for these four genes first at a lower price.
A definitive molecular diagnosis or peripheral neuropathy can:
  • Guide treatment, care, and surgical decisions, including avoiding of costly and ineffective treatment
  • Educate your patient on the risks of certain medications that can exacerbate hereditary neuropathy
  • Provide genetic and recurrence risk to the family
  • Allow patients to participate in clinical trials

Our staff of genetic counselors and laboratory directors is available to assist you in the ordering process.



Letters of Medical Necessity

Medical Affairs Resources

Athena Diagnostics Client Services - (800) 394-4493 Option 2

Athena Diagnostics Genetic Counselors -

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Resources for Patients

Athena Diagnostics knows that peripheral neuropathy can be challenging to manage. We are committed to providing quality testing to find the cause of you or your loved one's neuropathy.

Athena Alliance Program

We offer the Athena Alliance Program to make testing accessible and affordableLearn more about the program here.

Advocacy Groups

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Athena Diagnostics is a leader in diagnostic testing for neurological diseases and offers innovative tests for Alzheimer's disease, muscular dystrophy and other neuromuscular and developmental disorders.

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Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

(508) 756-2886

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