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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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