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Disorders causing brain malformations are phenotypically heterogeneous; mutations in certain genes have been associated inherited conditions causing brain developmental issues. Septo-optic dysplasia (SOD) specifically causes brain malformations early in development. Major clinical phenotypes include abnormalities of the optic nerve, midline brain deformities, and pituitary hypoplasia. Schizencephaly may also be a feature in septo-optic dysplasia; genes associated with schizencephaly have been added to this panel. Septo-optic dysplasia and schizencephaly have been shown to be autosomal dominant and recessive.

Reasons for Referral:

  • Suspected genetic etiology of a brain malformation
  • Carrier testing
  • Positive family history


Next generation sequencing using Illumina NextSeq 500 technology of the 7 septo-optic dysplasia and schizencephaly genes listed below:

Septo-optic dysplasia and Schizencephaly Panel (7 genes): COL4A1, EMX2, HESX1, OTX2, SHH, SIX3, SOX2

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):


Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


  1. Genetics Home Reference: SOD - https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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