Condition Description

Disorders that affect the nervous system include a large group of conditions with genetic and phenotypic heterogeneity. As a group, neurological disorders often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, and motor disability. Other characteristics may include brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. This wide phenotypic spectrum can make diagnosis challenging, but obtaining a specific diagnosis is important for prognosis, patient management, and development of therapeutic strategies.

  • Bras et al., (2012) Nature Reviews Neuroscience, 13:453-463.
  • Nemeth et al., (2013) Brain, 136:3106-3118.

Genes (163)

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


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 Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. 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.
  • Neurology: Sequencing Panel
  • Brain Malformations: Sequencing Panel
  • Epilepsy and Seizure Disorders: Sequencing Panel

How to Order