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NR0B1-Related Disorders via the NR0B1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9027 NR0B1 81404 81404,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9027NR0B181404 81404,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

The majority of documented NR0B1 (previously known as DAX1) mutations cause X-linked congenital adrenal hypoplasia (AHC), which is characterized by adrenal insufficiency and hypogonadotropic hypogonadism in males (Muscatelli et al. 1994). The primary adrenocortical failure in X-linked AHC is lack of the permanent adult cortical zone in the adrenal glands. The majority of X-linked AHC patients have disease onset at the neonatal stage while some patients can present in childhood. Significant clinical variability exists. In rare cases, carrier females have symptoms of adrenal insufficiency or hypogonadotropic hypogonadism due to skewed X-chromosome inactivation (Achermann et al. 2013).

The other important NR0B1-related disease is the gene-dosage-sensitive type of 46, XY sex reversal, which is a disorder of human sex determination (Bardoni et al. 1994). Some of these affected 46, XY individuals have female or ambiguous external genitalia while some have impaired testis formation. Isolated 46, XY gonadal dysgenesis has been associated with an interstitial duplication containing the NR0B1 gene (Barbaro et al. 2007).


The NR0B1 gene has 2 coding exons that encode an orphan nuclear hormone receptor, which plays a key role in the development of the adrenal gland and the hypothalamic-pituitary-gonadal axis.

X-linked congenital adrenal hypoplasia is caused by loss-of-function (partial or complete) mutations in the NR0B1 gene in a recessive manner (Muscatelli et al. 1994). These mutations can be de novo or transmitted within family. In this X-linked disease, genetic defects located throughout the NR0B1 gene include missense, nonsense, splicing mutations and small deletion/insertions (Human Gene Mutation Database). In addition, gross deletions involving the NR0B1 gene are common. In particular, deletion of the entire NR0B1 gene and even the neighboring genes has been repeatedly reported (Human Gene Mutation Database).

NR0B1-related 46, XY sex development disorders are caused by increased amount of its encoded protein secondary to gene duplication (Bardoni et al. 1994; Barbaro et al. 2007).

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 31 unrelated patients with X-linked congenital adrenal hypoplasia, 12 (~39%) were found to have NR0B1 mutations via DNA sequencing (Muscatelli et al. 1994). In another study of 17 families with X-linked congenital adrenal hypoplasia, NR0B1 mutations were found in all families via DNA sequencing (Zhang et al. 1998).

Gene copy number testing should be performed for patients with NR0B1-related 46, XY sex development disorders due to a gene dosage effect.

Testing Strategy

This test provides full coverage of all coding exons of the NR0B1 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with X-linked congenital adrenal hypoplasia or 46, XY sex reversal. Testing is also indicated for family members of patients who have known NR0B1 mutations.


Official Gene Symbol OMIM ID
NR0B1 300473
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel


  • Achermann JC, Vilain EJ. 2013. X-Linked Adrenal Hypoplasia Congenita. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviewsTM, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301604
  • Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. 2007. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J. Clin. Endocrinol. Metab. 92: 3305-3313. PubMed ID: 17504899
  • Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat. Genet. 7: 497-501. PubMed ID: 7951319
  • Human Gene Mutation Database (Bio-base).
  • Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W. 1994. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372: 672-676. PubMed ID: 7990958
  • Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, et al. 1998. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am. J. Hum. Genet. 62: 855-864. PubMed ID: 9529340


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Backbone)

1) Select Test Type

2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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