Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

NR5A1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NR5A1
Disorders:
Clinical Utility:
  • 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
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
341
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 255.2: Adrenogenital disorders, Adrenogenital syndromes,
  • 752.7: Indeterminate sex and pseudohermaphroditism, Gynandrism, Hermaphroditism, Ovotestis, Pseudohermaphroditism (male) (female), Pure gonadal dysgenesis
* 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

Back To Top