STEROID PANEL: 21- HYDROXYLASE DEFICIENCY

Steroid 21- hydroxylase deficiency accounts for more than 90% of the cases of Congenital Adrenal Hyperplasia (CAH). The classical form of CAH presents in childhood with markedly raised 17- hydroxypregesterone (17-OHP). Neonates are screened for CAH by testing 17-OHP levels to reduce mortality and other serious sequelae. False positive results can occur due to physiological stress. Steroid profiling by LCMS/MS improves the positive predictive value of newborn screening for Congenital Adrenal Hyperplasia (CAH).

  • Test Type:
  • Pre-test Information:
    Diurnal variation present; sample will be taken between 8-10 am OR 4-6 pm.
  • Report Delivery:
    Sample Mon / Thu by 9 am; Report Wed / Sat
  • Components:
    0

Sample Report

Test Name STEROID PANEL: 21- HYDROXYLASE DEFICIENCY
Report Availability Sample Mon / Thu by 9 am; Report Wed / Sat
Code G190
Category Disorders of Adrenal Gland
Specimen 2 mL (1 mL min.) serum from 1 Red Top (No Additive) tube. Do not use SST gel barrier tubes. Ship refrigerated or frozen. Diurnal variation present; take sample between 8-10 am OR 4-6 pm. Specify time and date on specimen container and test request form.
Stability Room 8 hrs
Stability Refrigerated 7 days
Stability Frozen 7 weeks
Method LC-MS / MS