Antley-Bixler Syndrome (ABS)

Cytochrome P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis associated with a broad range of clinical presentations. Steroid abnormalities occur in all patients, consistent with a form of congenital adrenal hyperplasia (CAH) causing deficiencies of both 21-hydroxylase and 17?-hydroxylase/17,20-lyase; therefore, some patients with POR deficiency may have an abnormal newborn screen for 21-hydroxylase deficiency. Like classical CAH, the steroid abnormalities may lead to cortisol deficiency, which in some cases can be life-threatening without treatment (Fukami et al., 2005). Disordered sex development can be observed in both males and females, and ambiguous genitalia is a common finding. At the severe end of the spectrum, patients may also have skeletal and craniofacial findings consistent with Antley-Bixler syndrome, including craniosynostosis, brachycephaly, severe midface hypoplasia, radiohumeral synostosis, and multiple joint contractures

Tests Available

Forms and Documents

Test Details

  • 1. Confirmation of a clinical and/or biochemical diagnosis
  • 2. Carrier testing in at-risk family members
  • 3. Prenatal diagnosis for known mutations

Ordering

339
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

*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.

References

  1. Fluck et al. (2004) Curr Opin Pediatr 18:435-441
  2. Reardon et al. (2000) J Med Genet 37:26-32
  3. Scott et al. (2008) Horm Res 69:266-275
  4. Huang et al. (2005) Am J Hum Genet 76:729-749
  5. Fukami et al. (2005) J of Clin Endocrinol Metab 90(1):414-426