SRD5A2 Gene Sequencing

Forms and Documents

Test Details

SRD5A2
  • Confirmation of the clinical diagnosis
  • To differentiate 5-? reductase deficiency from other 46,XY disorders of sex development
  • Prenatal diagnosis for known familial mutations
  • Carrier testing for at-risk relatives
  • Capillary Sequencing

Ordering

469
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81479x1
No
Yes
* 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