Brain Malformations: Deletion/Duplication Panel

Condition Description

Many genes are associated with Mendelian forms of malformations of brain development. Genes involved in the malformations in the brain show locus heterogeneity and have been typically identified in small kindred sizes. Therefore, the diagnostic classifications can be difficult and may not reflect the molecular pathogenesis. Pathogenic variants have been detected in more than 51 genes and are known to cause lissencephaly, cerebellar hypoplasia disorders, and Joubert syndrome. These disorders can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

  • Barkovich et al. (2009), Brain. 132:3199-3230.
  • Dyment et al. (2013), Curr Neurol Neurosci Rep. 13:364.

Genes (50)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


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


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
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.
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.
  • Brain Malformations: Sequencing Panel

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