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
Buccal Swabs | Dried Blood Spots

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


For price inquiries please email

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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  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.