Septo-Optic Dysplasia

Septo-optic dysplasia (SOD) is a disorder of early brain development with a variable phenotype. The diagnosis of this disorder is established by the presence of any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities. The brain abnormalities include absence of the corpus callosum and septum pellucidum (Dattani, 1998). About one-third of people diagnosed with septo-optic dysplasia have all three major features; most affected individuals have two of the major features. Mutations in the HESX1 gene have also been identified in patients with combined pituitary hormone deficiency without other abnormalities being present (Sobrier, 2006).

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


  • 377.43 Optic nerve hypoplasia
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. Thomas et al., (2001) Hum Molec Genet 10: 39-45
  2. Tajima et al., (2003) J Clin Endocr Metab 88: 45-50
  3. Sobrier et al., (2006) J Clin Endocr Metab 91:4528-4536
  4. McNay et al., (2007) J Clin Endocr Metab 92:691-697
  5. Dattani et al., (1998) Nat Genet 19:125-133