Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at

NR5A1 Del/Dup



Clinical Utility:
  • To differentiate NR5A1-associated DSD from other disorders causing XY gonadal dysgenesis
  • To determine the etiology of infertility in males with severe spermatogenic failure
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
Lab Method:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 752.7: Indeterminate sex and pseudohermaphroditism, Gynandrism, Hermaphroditism, Ovotestis, Pseudohermaphroditism (male) (female), Pure gonadal dysgenesis
  • 255.2: Adrenogenital disorders, Adrenogenital syndromes,
* For price inquiries please email


  1. Achermann et al., (2002) J Clin Endocrinol Metab 87:1829-1833
  2. Kohler et al., (2008) Hum Mutat 29(1):59-64
  3. Kohler et al., (2009) Eur J Endocrinol 161:237-242
  4. Bashamboo et al., (2010) Am J Hum Genet 87:505- 512
  5. Lin et al., (2007) J Clin Endocrinol Metab 92:991-999
  6. Biason-Lauber et al., (2000) Am J Hum Genet 67:1563- 1568
  7. Lourenco et al., (2009) N Engl J Med 360:1-11
  8. Achermann et al., (2001) Mol Cell Endocrinol 185:17-25
  9. Lin et al., (2008) Sex Dev 2:200-209
  10. van Silfhout et al., (2009) Eur J Hum Genet 52:157-160
  11. Philibert et al., (2010) Am J Hum Genet 87:505-512
  12. Lin et al., (2006) J Clin Endocrinol Metab 91(8):3048-3054

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