NeuropathySelect is a comprehensive panel designed for patients experiencing symptoms associated with polyneuropathy but lacking a clear diagnosis.  Given the overlap in genetic causes and variability in clinical symptoms and presentation1-3, NeuropathySelect represents the most effective way of identifying at-risk individuals, or confirming a diagnosis.1-3  
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Test Code 9570
Turnaround Time (TAT) 2-4 weeks
Number of Genes 81

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

NeuropathySelect can detect >97% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Polyneuropathy disorders affect a variety of peripheral nerve cells and fibers, including motor, sensory, and autonomic.  These disorders are a relatively common diverse group of diseases with an estimated prevalence of 5-8%.  Clinically this group of disorders presents with distal symmetric sensorimotor most frequently.  Heterogeneous clinical symptoms are observed depending on involvement of sensory, motor, or autonomic nerve fiber impairment.  Symptoms may include hypalgesia, heat and cold allodynia, dysesthesia, sensory ataxia, paresis, muscle atrophy, hypotonia, hypohidrosis and/or anhidrosis, bladder dysfunction, indigestion, cardiac arrhythmias and tachycardia, gastroparesis, urogenital dysfunction, and period pain.  Hereditary forms of peripheral neuropathy include, but are not limited to, hereditary motor and sensory neuropathy, often referred to as Charcot-Marie-Tooth disease, hereditary motor neuropathies, and small fiber neuropathies4,5.  Specific therapies for polyneuropathy disorders are based on the precise etiology diagnosis and it is often hard to distinguish inherited from sporadic or acquired forms of neuropathy without genetic testing. Numerous genes have been identified as associated with hereditary peripheral neuropathies with autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance patterns observed.  Given the overlap in genetic causes and variability in clinical symptoms and presentation, one comprehensive inherited neuropathy test may be the most effective way of identifying at-risk individuals, or confirming a diagnosis.3-5

  1. Eggermann K, et al. Hereditary neuropathies: clinical presentation and genetic panel diagnosis. Dtsch Arztebl Int. 2018; 115: 91–97.
  2. England, JD et al. Distal symmetric polyneuropathy: a definition for clinical research: report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. .Neurology. 2005; 64(2):199-207.
  3. Mary P et al. Neuromuscular diseases: Diagnosis and management. Orthop Traumatol Surg Res. 2018; 104(1S):S89-S95.
  4. Hanewinckel, R et al. Prevalence of polyneuropathy in the general middle-aged and elderly population..Neurology.  2016; 87(18):1-7.
  5. Sommer, C et al. Hereditary Neuropathies Clinical Presentation and Genetic Panel Diagnosis. Dtsch Arztebl Int. 2018; 115(6):83-90.
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