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

HESX1
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

474
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 377.43 Optic nerve hypoplasia
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References

  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