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.

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

Genes (163)

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Indications

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

Methodology

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.

Detection

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

When sample fails to meet the acceptable criteria, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
Whole Blood (EDTA)
WBP

Requirements
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 24 hours of collection. Do not refrigerate or freeze.
DNA, Isolated
DNA

Requirements
Microtainer
3µg
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.
  • Neurology: Sequencing Panel
  • Brain Malformations: Sequencing Panel
  • Epilepsy and Seizure Disorders: Sequencing Panel

How to Order