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Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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STEROID PANEL: 21- HYDROXYLASE DEFICIENCY

 2500

EX1887      STEROID PANEL: 21- HYDROXYLASE DEFICIENCY
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 Refrigerated Frozen
8 hrs 7 days 7 weeks
Method: LC-MS / MS
Comment: LC-MS/MS is the gold standard for steroid hormone assays due to increased sensitivity & specificity as compared to immunoassays. Endocrine Society Clinical Practice Guidelines (2018) recommend second-tier screening for CAH by LCMS/MS.
Report: Contact us to know the TAT.
Usage: 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- hydroxyprogesterone (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).
Doctor Specialty: Endocrinologist
Disease: Disorders of Adrenal Gland
Components: *17 Hydroxyprogesterone *Androstenedione *Cortisol *21-deoxycortisol *17-Hydroxyprogesterone + 21 deoxycortisol : Cortisol Ratio
Courier Charges: 0.00
Home Collection: Available (*T&C Apply)
Department: GENETICS
Pre Test Information: Diurnal variation present; sample will be taken between 8-10 am OR 4-6 pm.