Hereditary Neuropathies: Deletion/Duplication Panel

Condition Description

Hereditary neuropathies are a collection of inherited disorders affecting the peripheral nervous system. The hereditary neuropathies are divided into four major subcategories: hereditary motor and sensory neuropathy, hereditary sensory neuropathy, hereditary sensory and autonomic neuropathy, and hereditary motor neuropathy. Charcot-Marie-Tooth disease, is of the most common types of the hereditary motor and sensory neuropathies. Clinical presentation typically includes sensory symptoms like pain in the feet and hands, motor symptoms such as weakness in the lower leg and feet muscles. Some hereditary neuropathies can affect the autonomic nerves, resulting in impaired sweating, postural hypotension, or insensitivity to pain.

The estimated prevalence of hereditary neuropathies is about 1 in 2500 individuals. A myriad of genes are associated with hereditary neuropathies. Genetic testing has therefore become an important tool in the diagnosis of neuropathies.

  • Sagnelli et al. (2013) J Neurol. 260(10):2684-90.
  • Auer-Grumbach M. (2013) Handb Clin Neurol. 115:893-906.
  • Murphy et al. (2013) Handb Clin Neurol. 2013;115:213-32.

Genes (90)

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This test is indicated for:
  • Confirmation of a clinical diagnosis of a neuropathy.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
  • Hereditary Neuropathies: Sequencing Panel

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