Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  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:
84311x1, 88271x10, 88291x1
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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