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NR0B1 (DAX1) Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
NR0B1
Disorders:
Clinical Utility:
  • To determine the etiology of primary adrenal insufficiency in a male, particularly in the presence of HH, an X-linked family history, and/or symptoms suggestive of a contiguous gene deletion syndrome
  • To determine etiology of 46,XY gonadal dysgenesis and ambiguous genitalia
  • Carrier testing for females with a family history of X-linked AHC
  • Prenatal diagnosis for at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
416
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
Billing Information:
View Billing Policy
ICD Codes:
  • 752.7: Indeterminate sex and pseudohermaphroditism, Gynandrism, Hermaphroditism, Ovotestis, Pseudohermaphroditism (male) (female), Pure gonadal dysgenesis
  • 255.41: Glucocorticoid deficiency, Addisonian crisis, Addison's disease NOS, Adrenal atrophy (autoimmune), Adrenal calcification, Adrenal crisis, Adrenal hemorrhage, Adrenal infarction, Adrenal insufficiency NOS, Combined glucocorticoid and mineralocorticoid deficiency, Corticoadrenal insufficiency NOS
  • 257.2: Other testicular hypofunction, Defective biosynthesis of testicular androgen, Eunuchoidism: NOS hypogonadotropic Failure: Leydig's cell, adult seminiferous tubule, adult Testicular hypogonadism

REFERENCES

  1. Morel et al., (January 2010) Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies Presented at Hormonal and Genetic Basis of Sexual Differentiation Disorder and Hot Topics in Endocrinology, Miami, FL
  2. Bardoni et al., (1994) Nat Genet 7:497-501
  3. Salvi et al., (2002) J Clin Endocrinol Metab 87:4094-4100
  4. Lin et al., (2006) J Clin Endocrinol Metab 91:3048-3054
  5. Muscatelli et al., (1994) Nature 372:672-676
  6. McCabe ERB (2007) Mol Cell Endocrinol 265- 266:179-182
  7. Ho et al., (2004) Mol Genet Metab 83:330-336
  8. Zhang et al., (1998) Am J Hum Genet 62:855-864
  9. Barbaro et al., (2008) Clin Genet 73:453-464
  10. Shaikh et al., (2008) J Med Genet 45:e1
  11. Seminara et al., (1999) J Clin Endocrinol Metab 84:4501- 4509
  12. Merke et al., (1999) NEJM 340:1248-1252
  13. Mantovani et al., (2002) J Clin Endocrinol Metab 87:44-48
  14. Achermann et al., (2001) Molec Cell Endocrinol 185:17-25

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