Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

NR5A1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NR5A1
Disorders:
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

ORDERING

Test Code:
341
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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

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