Genomic Unity® Neuropathies Analysis

Test Description

Test Code – NR009

Hereditary neuropathies are a group of disorders that affect the peripheral nervous system and are characterized by progressive muscle weakness, atrophy, and loss of sensation. Hereditary neuropathies can be motor, sensory, motor and sensory, or sensory and autonomic.  

Genomic Unity® Neuropathies Analysis uses a whole genome sequencing backbone to diagnose genetic causes of neuropathy in 103 genes.

When to order

Order this test when clinical symptoms are consistent with inherited neuropathy. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of neuropathy-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
  • Copy number variant analysis of neuropathy-associated genes (duplications/deletions, mobile element insertions, and inversions).
  • Repeat expansion analysis of the GIPC1, LRP12, RFC1, VWA1 and ZFHX3 genes. (Learn more)

Optionally includes:

Included Genes

Note: The IFN2 gene is not fully covered by this test, therefore not all pathogenic variants may be detected. The false negative rate for repeat expansions has not been determined.


This test covers many disorders including:

  • Charcot-Marie-Tooth (CMT) disease
  • Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)
  • Hereditary distal motor neuropathy with myopathic features (HMNMYO)
  • Hereditary neuropathy with liability to pressure palsies (HNPP)
  • Hereditary sensory and autonomic neuropathies
  • Hereditary motor neuropathies
  • Hereditary sensory neuropathies
  • Giant axonal neuropathy
  • Hereditary transthyretin-related amyloidosis

Test Performance

Sensitivity for SNVs
 >  %
Specificity for SNVs
Positive predictive value for SNVs
Clinical sensitivity for structural variants

CPT Codes

81448, 81260, 81324, 81325, 81327, 81403, 81404, 81405, 81406, 81407, 81479

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens



Specimen Requirements



Specimen Requirements



Specimen Requirements

Turnaround Time

A report will be issued within 4-8 weeks from receipt of all sample requirements.

Contact Us

Please contact customer service to request a kit.

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