NR5A1 Gene Sequencing

Forms and Documents

Test Details

NR5A1
  • To differentiate NR5A1-associated DSD from other disorders causing XY gonadal dysgenesis
  • To determine the etiology of infertility in males with severe spermatogenic failure
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations
  • Capillary Sequencing

Ordering

341
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. Lin et al., (2006) J Clin Endocrinol Metab 91(8):3048-3054
  2. Bashamboo et al., (2010) Am J Hum Genet 87:505- 512
  3. Kohler et al., (2009) Eur J Endocrinol 161:237-242
  4. Kohler et al., (2008) Hum Mutat 29(1):59-64
  5. Achermann et al., (2002) J Clin Endocrinol Metab 87:1829-1833
  6. Lin et al., (2007) J Clin Endocrinol Metab 92:991-999
  7. Biason-Lauber et al., (2000) Am J Hum Genet 67:1563- 1568
  8. van Silfhout et al., (2009) Eur J Hum Genet 52:157-160
  9. Philibert et al., (2010) Am J Hum Genet 87:505-512
  10. Lin et al., (2008) Sex Dev 2:200-209
  11. Achermann et al., (2001) Mol Cell Endocrinol 185:17-25
  12. Lourenco et al., (2009) N Engl J Med 360:1-11