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 Del/Dup

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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
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 zebras@genedx.com

REFERENCES

  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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