Cytochrome P450 Oxidoreductase (POR) Deficiency

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 17a-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. 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

  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in at risk pregnancies
  • Carrier testing

Ordering

TJ36
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

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

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.