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 Gene Sequencing



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:
Capillary Sequencing


Test Code:
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots


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


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

Back To Top