GeneDx and Sema4 are now a combined company  Learn more

Prenatal Adrenal Hypoplasia Congenita (AHC), X-linked


Genes

NR0B1

Clinical Utility

  • Full gene sequencing for male fetuses with a history of low maternal uE3, particularly in the presence of a family history suggestive of X-linked AHC
  • Mutation-specific testing for fetuses with a family history of known NR0B1 mutations

Lab Method

  • Capillary Sequencing

Test Code

663

CPT Codes*

81404x1

ABN Required

No

Turnaround Time**

2-3 weeks

Preferred Specimen

20 mL Amniotic Fluid

Alternative Specimen

20 mg CVS | 2 T25 flasks of cultured amniocytes | 2 T25 flasks of cultured chorionic villi | 3 Ug DNA Concentration

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.