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X-linked Adrenal Hypoplasia Congenita (NR0B1 aka DAX1)


Genes

NR0B1

Clinical Utility

  • To determine the etiology of primary adrenal insufficiency in a male, particularly in the presence of HH, an X-linked family history, and/or symptoms suggestive of a contiguous gene deletion syndrome
  • To determine etiology of 46,XY gonadal dysgenesis and ambiguous genitalia
  • Carrier testing for females with a family history of X-linked AHC
  • Prenatal diagnosis for at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TA89

CPT Codes*

81404x1

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Dried Blood Spots

*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.