Discordant external genitalia

Forms and Documents

Test Details

AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1
  • Genital ambiguity or discordant external genitalia

This panel includes 19 genes; some variants in these genes may manifest
with genital ambiguity or external genitalia that are discordant with gender based on genetic
testing findings. Pathogenic variants in these genes may be suspected when the fetal karyotype
is 46,XY or non-invasive prenatal screening is consistent with the presence of a Y chromosome
but ultrasound reveals apparently female or ambiguous external genitalia. Ultrasound detection
of abnormalities of the genitalia can be detected as early as the 2nd trimester of pregnancy.
Depending on the underlying disorder, renal malformations, congenital heart defects,
limb/skeletal malformations, intrauterine growth restriction, cleft lip/cleft palate, and
congenital brain defects may also be observed by ultrasound. Note that some ultrasound
findings may not be detectable until the 3rd trimester of pregnancy. In addition, some disorders
may also present with abnormal findings on second trimester maternal serum screening, such as
abnormal maternal serum estriol (MS-uE3) levels.

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J719
3 weeks
20 mL Amniotic Fluid | 2 T25 flasks of cultured amniocytes | 20 mg CVS | 2 T25 flasks of cultured chorionic villi | Direct or Cultured POC
3 ug Extracted DNA

Billing

81265x1, 81400x1, 81404x1, 81405x2, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gottlieb, Beitel, Trifiro. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2014 Jul 10]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  2. Shoubridge et al., (2010) Patho Genetics 3:1 (PMID: 20148114).
  3. Wada et al. (2013) AJNR Am J Neuroradiol 34 (10):2034-8 (PMID: 23681356)
  4. Kim et al., (2008) American Journal of Human Genetics 83(4):511-519 (PMID: 18834967)
  5. Ghizzoni et al. (2011) Endocrine Development 20 :54-62 (PMID: 21164259)
  6. Kim et al. (2008) J. Clin. Endocrinol. Metab. 93 (3):696-702 (PMID: 18182448)
  7. Zhang et al. (2015) J. Steroid Biochem. Mol. Biol. 150 :11-6 (PMID: 25697092)
  8. Yao et al. (2013) Gynecol. Endocrinol. 29 (1):10-5 (PMID: 22954317)
  9. Nowaczyk. Smith-Lemli-Opitz Syndrome. 1998 Nov 13 [Updated 2013 Jun 20]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  10. Canto et al. (2004) The Journal Of Clinical Endocrinology And Metabolism 89 (9):4480-3 (PMID: 15356051)
  11. Das et al., (2011) Eur J Med Genet 54(6):e529-534 (PMID: 21816240)
  12. Andola et al., (2015) British Journal of Medicine & Medicine Research 9(12):1-8.
  13. Lindqvist et al. (2001) The Journal Of Clinical Endocrinology And Metabolism 86 (2):921-3 (PMID: 11158067)
  14. Mendonca et al. (2016) J. Steroid Biochem. Mol. Biol. : (PMID: 27163392)|
  15. Moisan et al. (1999) J. Clin. Endocrinol. Metab. 84 (12):4410-25 (PMID: 10599696)
  16. Simard et al. (2000) Endocr. Res. 26 (4):761-70 (PMID: 11196452)
  17. Thiel et al., (2011) American Journal of Human Genetics 88(1):106-114 (PMID: 21211617)
  18. Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development. 2008 May 21 [Updated 2016 Jun2]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  19. Cragun D, Hopkin RJ. Cytochrome P450 Oxidoreductase Deficiency. 2005 Sep 8 [Updated 2009 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.
  20. Mansour et al., (1995) Journal of Medical Genetics 32(6):415-420 (PMID: 7666392)
  21. Maimoun et al., (2011) The Journal of Clinical Endocrinology and Metabolism 96(2):296-307 (PMID: 21147889)
  22. Lin et al., (1991) J Clin Invest 88:1955-1962 (PMID: 1661294)
  23. Bose et al., (1996) New Engl J Med 335:1870-1878 (PMID: 8948562)
  24. Dome JS, Huff V. Wilms Tumor Predisposition. 2003 Dec 19 [Updated 2016 Oct 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  25. Cassia Amaral et al., (2015) Clin Endocrinol (Oxf) 82(2):274-279 (PMID: 25074426)
  26. Umehara et al., (2000) Am J Hum Genet 67:1302-1305 (PMID: 11017805)
  27. Boehmer et al. (1999) The Journal Of Clinical Endocrinology And Metabolism 84 (12):4713-21 (PMID: 10599740)
  28. Cohen-Kettenis, et al. (2005) Archives Of Sexual Behavior 34 (4):399-410 (PMID: 16010463)
  29. Merrill et al., (2009) American Journal of Human Genetics 84(4):542-549 (PMID: 19361615)
  30. Fukami et al. (2005) The Journal Of Clinical Endocrinology And Metabolism 90 (1):414-26 (PMID: 15483095)
  31. Mansour et al., (2002) Journal of Medical Genetics 39(8):597-602 (PMID: 12161603)
  32. Lalani et al., (2006) American Journal of Human Genetics 78(2):303-314 (PMID: 16400610)
  33. Ruf et al. (2004) Kidney Int. 66 (2):564-70 (PMID: 15253707)
  34. Eddy and Mauer (1985) J. Pediatr. 106 (4):584-7 (PMID: 2984395)
  35. Dao et al. (1987) Am. J. Hum. Genet. 41 (2):202-17 (PMID: 3039839)
  36. Mueller (1994) J. Med. Genet. 31 (6):471-7 (PMID: 8071974)
  37. Barbaux et al. (1997) Nature Genetics 17 (4):467-70 (PMID: 9398852)
  38. Ezaki et al. (2015) Cancer Prev Res (Phila) 8 (4):271-6 (PMID: 25623218)
  39. Ono and Harley (2013) Nat Rev Endocrinol 9(2):79-91 (PMID: 23296159)

Forms and Documents

Test Details

AR, ARX, ATRX, CHD7, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, HSD17B3, HSD3B2, NEK1, NR5A1, POR, SOX9, SRD5A2, SRY, STAR, WT1
  • Genital ambiguity or discordant external genitalia
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T991
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81400x1, 81404x1, 81405x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gottlieb, Beitel, Trifiro. Androgen Insensitivity Syndrome. 1999 Mar 24 [Updated 2014 Jul 10]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  2. Shoubridge et al., (2010) Patho Genetics 3:1 (PMID: 20148114).
  3. Wada et al. (2013) AJNR Am J Neuroradiol 34 (10):2034-8 (PMID: 23681356)
  4. Kim et al., (2008) American Journal of Human Genetics 83(4):511-519 (PMID: 18834967)
  5. Ghizzoni et al. (2011) Endocrine Development 20 :54-62 (PMID: 21164259)
  6. Kim et al. (2008) J. Clin. Endocrinol. Metab. 93 (3):696-702 (PMID: 18182448)
  7. Zhang et al. (2015) J. Steroid Biochem. Mol. Biol. 150 :11-6 (PMID: 25697092)
  8. Yao et al. (2013) Gynecol. Endocrinol. 29 (1):10-5 (PMID: 22954317)
  9. Nowaczyk. Smith-Lemli-Opitz Syndrome. 1998 Nov 13 [Updated 2013 Jun 20]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  10. Canto et al. (2004) The Journal Of Clinical Endocrinology And Metabolism 89 (9):4480-3 (PMID: 15356051)
  11. Das et al., (2011) Eur J Med Genet 54(6):e529-534 (PMID: 21816240)
  12. Andola et al., (2015) British Journal of Medicine & Medicine Research 9(12):1-8.
  13. Lindqvist et al. (2001) The Journal Of Clinical Endocrinology And Metabolism 86 (2):921-3 (PMID: 11158067)
  14. Mendonca et al. (2016) J. Steroid Biochem. Mol. Biol. : (PMID: 27163392)|
  15. Moisan et al. (1999) J. Clin. Endocrinol. Metab. 84 (12):4410-25 (PMID: 10599696)
  16. Simard et al. (2000) Endocr. Res. 26 (4):761-70 (PMID: 11196452)
  17. Thiel et al., (2011) American Journal of Human Genetics 88(1):106-114 (PMID: 21211617)
  18. Mohnach L, Fechner PY, Keegan CE. Nonsyndromic Disorders of Testicular Development. 2008 May 21 [Updated 2016 Jun2]. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  19. Cragun D, Hopkin RJ. Cytochrome P450 Oxidoreductase Deficiency. 2005 Sep 8 [Updated 2009 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.
  20. Mansour et al., (1995) Journal of Medical Genetics 32(6):415-420 (PMID: 7666392)
  21. Maimoun et al., (2011) The Journal of Clinical Endocrinology and Metabolism 96(2):296-307 (PMID: 21147889)
  22. Lin et al., (1991) J Clin Invest 88:1955-1962 (PMID: 1661294)
  23. Bose et al., (1996) New Engl J Med 335:1870-1878 (PMID: 8948562)
  24. Dome JS, Huff V. Wilms Tumor Predisposition. 2003 Dec 19 [Updated 2016 Oct 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  25. Cassia Amaral et al., (2015) Clin Endocrinol (Oxf) 82(2):274-279 (PMID: 25074426)
  26. Umehara et al., (2000) Am J Hum Genet 67:1302-1305 (PMID: 11017805)
  27. Boehmer et al. (1999) The Journal Of Clinical Endocrinology And Metabolism 84 (12):4713-21 (PMID: 10599740)
  28. Cohen-Kettenis, et al. (2005) Archives Of Sexual Behavior 34 (4):399-410 (PMID: 16010463)
  29. Merrill et al., (2009) American Journal of Human Genetics 84(4):542-549 (PMID: 19361615)
  30. Fukami et al. (2005) The Journal Of Clinical Endocrinology And Metabolism 90 (1):414-26 (PMID: 15483095)
  31. Mansour et al., (2002) Journal of Medical Genetics 39(8):597-602 (PMID: 12161603)
  32. Lalani et al., (2006) American Journal of Human Genetics 78(2):303-314 (PMID: 16400610)
  33. Ruf et al. (2004) Kidney Int. 66 (2):564-70 (PMID: 15253707)
  34. Eddy and Mauer (1985) J. Pediatr. 106 (4):584-7 (PMID: 2984395)
  35. Dao et al. (1987) Am. J. Hum. Genet. 41 (2):202-17 (PMID: 3039839)
  36. Mueller (1994) J. Med. Genet. 31 (6):471-7 (PMID: 8071974)
  37. Barbaux et al. (1997) Nature Genetics 17 (4):467-70 (PMID: 9398852)
  38. Ezaki et al. (2015) Cancer Prev Res (Phila) 8 (4):271-6 (PMID: 25623218)
  39. Ono and Harley (2013) Nat Rev Endocrinol 9(2):79-91 (PMID: 23296159)