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.

SRD5A2 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
SRD5A2
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • To differentiate 5-α reductase deficiency from other 46,XY disorders of sex development
  • Prenatal diagnosis for known familial mutations
  • Carrier testing for at-risk relatives
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
  • 752.61: Hypospadias
  • 752.64: Micropenis
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Makridakis et al., (1997) Cancer Res 57:1020-1022
  2. Mazen et al., (2003) Clin Endocrinol 58:627-631
  3. Andersson et al., (1991) Nature 354:159-161
  4. Sasaki et al., (2003) J Clin Endocrinol Metab 88:3431-3436
  5. Wang et al., (2004) Eur J Hum Genet 12:706-712
  6. Vilchis et al., (2010) J Androl 31:358-364
  7. Hackel et al., (2005) J Mol Med 83:569-576
  8. Maimoun et al., (2011) J Clin Endocrinol Metab 96:296-307
  9. Thigpen et al., (1992) J Clin Invest 90:799-809

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