Ovarian dysfunction

Forms and Documents

Test Details

BMP15, CYP17A1, CYP19A1, ESR1, FGFR1, FIGLA, FSHR, GDF9, KISS1, KISS1R, LHB, LHCGR, NOBOX, NR5A1, POR, PROK2, PROKR2, PSMC3IP, SEMA3A, TAC3, TACR3, WDR11
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with POF
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

677
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2, 81406x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

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  2. Shelling (2010) Reproduction 140(5):633-641 (PMID: 20716613).
  3. Woad et al., (2006) Aust N Z J Obstet Gynaecol 46(3):242-244 (PMID: 16704481).
  4. Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816 (PMID: 21739597).
  5. Willemsen et al., (2011) Clin Genet 80(3):214-225 (PMID: 21651511).
  6. ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010 (PMID: 20859177).
  7. Conte et al., (1994) J Clin Endocrinol Metab 78(6):1287-1292 (PMID: 8200927).
  8. Jones et al., (2006) Trends Endocrinol Metab 17(2):53-62 (PMID: 16480891).
  9. Lourenco et al., (2009) N Engl J Med 360:1-11 (PMID: 19246354).
  10. Bennett (2004) Pharmacogenomics 5(4):433-438 (PMID: 15165179).
  11. McConkie-Rosell et al., (2005) J Genet Couns14:249-270 (PMID: 16047089).
  12. Bouilly et al., (2011) Hum Mutat 32(10):1108-1113 (PMID: 21837770).
  13. Qin et al., (2007) Am J Hum Genet 81(3):576-581 (PMID: 17701902).
  14. Tiotiu et al., (2010) Hum Reprod 25(6):1581-1587 (PMID: 20364024)
  15. Laissue et al., (2006) Eur J Endocrinol 154(5):739-744 (PMID: 16645022).
  16. Zhao et al., (2008) Am J Hum Genet 82(6):1342-1348 (PMID: 18499083).
  17. Quaynor et al., (2013) N Engl J Med 368(2): 164-171 (PMID: 23841731).
  18. Bernard et al., (2017) J Clin Endocrinol Metab 102(1): 93-99 (PMID: 27754803).
  19. Caronia et al., (2011) N Engl J Med 364(3): 215-225 (PMID: 21247312).
  20. Topaloglu et al., N Engl J Med (2012) 366: 629-635 (PMID: 22335740).
  21. Valdez-Socin et al., (2014) Front Endocrinol 9;5: 109 (PMID: 25071724).
  22. Gianetti et al., (2010) J Clin Endocrinol Metab 96(6): 2857-2856 (PMID: 20332248).
  23. Hanchate et al., (2012) PLoS Genet 8(8): e1002896 (PMID: 22927827).
  24. Kim et al., (2010) Am J Hum Genet 87(4): 465-476 (PMID: 20887964).
  25. Fortuno and Labarta (2014) J Assist Reprod Genet 31(12): 1575-1585 (PMID: 25227694).
  26. Qin et al., (2015) Hum Reprod 21(6): 787-808 (PMID: 26243799).