Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

SRD5A2 Gene Sequencing

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:
Capillary Sequencing

ORDERING

Test Code:
469
Turnaround Time:
4-6 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:
  • 752.64: Micropenis
  • 752.7: Indeterminate sex and pseudohermaphroditism, Gynandrism, Hermaphroditism, Ovotestis, Pseudohermaphroditism (male) (female), Pure gonadal dysgenesis
  • 752.61: Hypospadias
* For price inquiries please email zebras@genedx.com

REFERENCES

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

Back To Top