Gender Verification

SRY Presence/Absence testing is offered to determine the presence or absence of the SRY gene in individuals with 46,XX testicular DSD who have a 46,XX karyotype and ambiguous or normal male external genitalia with two testicles, azoospermia, and absent Mullerian structures

Tests Available

Forms and Documents

Test Details

  • Ambiguous Gender


4 weeks
2-5 mL Blood - Lavender Top Tube
Dried Blood Spots | Buccal Swabs


* For price inquiries please email


  1. Sarafoglou et al., (2000) J Clin Endocrinol Metab 85:483-493.
  2. Hawkins, J. (1992) Am J Hum Genet 51: 979-984.
  3. Scherer et al., (1998) Cytogenet Cell Genet 80:188-192.
  4. Tagliarini et al., (2005) Braz J Med Bio Res 38:17-25.
  5. Paris et al., (2007) Fertil Steril 88:1437e21-25.
  6. Cameron, et al., (1997) Hum Mutat 9: 388-395.
  7. Delot and Vilain. Nonsyndromic 46,XX Testicular Disorders of Sex Development. 2003 Oct 30 [Updated 2015 May 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.