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NR5A1 Del/Dup

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:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 752.7: Indeterminate sex and pseudohermaphroditism, Gynandrism, Hermaphroditism, Ovotestis, Pseudohermaphroditism (male) (female), Pure gonadal dysgenesis
  • 255.2: Adrenogenital disorders, Adrenogenital syndromes,
* For price inquiries please email zebras@genedx.com

REFERENCES

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

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