Short Description

This assay helps to differentiate 4 common enzyme deficiencies of CAH viz., 21-Hydroxylase, 11?ý-Hydroxylase, 17-Hydroxylase & 3-Hydroxysteroid Dehydrogenase deficiencies. Steroid profiling by LC-MS/MS improves the positive predictive value of newborn screening for Congenital Adrenal Hyperplasia.

PreTest Information

Diurnal variation present; sample to be taken between 8-10 am OR 4-6 pm.

Detail Description

STEROID PANEL FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) Test: Symptoms, Diagnosis, and Cost

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands. The adrenal glands produce hormones that are essential for various bodily functions. CAH occurs when there is a deficiency in one of the enzymes that are involved in the production of these hormones. The most common form of CAH is 21-hydroxylase deficiency.

Individuals with CAH may experience a range of symptoms, including:

• Abnormal genitalia in females
• Early puberty in both sexes
• Excessive hair growth
• Irregular menstrual periods
• Low blood sugar
• Salt cravings
• Short stature
• Vomiting

Diagnosis of CAH typically involves a physical exam, blood tests, and imaging studies. One of the blood tests that may be ordered is a steroid panel. The steroid panel is a group of tests that measure the levels of various hormones in the blood, including:

• 17-alpha hydroxyprogesterone (17-OHP)
• Androstenedione
• Cortisol
• DHEA-S

Elevated levels of 17-OHP are a hallmark of CAH, particularly the 21-hydroxylase deficiency form. Androstenedione and DHEA-S are also elevated in individuals with CAH. Cortisol levels may be low or normal, depending on the severity of the condition.

The steroid panel for CAH typically costs around INR 5500. However, the cost may vary depending on the laboratory and location.

Early diagnosis and treatment of CAH is essential to prevent complications and improve outcomes. Treatment may involve hormone replacement therapy to replace the deficient hormones and medications to manage symptoms.

If you or your child has symptoms of CAH, talk to your healthcare provider about the possibility of testing for the condition, including a steroid panel.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including testing for CAH. Our state-of-the-art laboratory is equipped with the latest technology and staffed by experienced professionals. Contact us today to learn more about our services and how we can help you.

Conclusion

The steroid panel for CAH is a group of blood tests that measures the levels of various hormones in the blood. Elevated levels of 17-OHP, androstenedione, and DHEA-S are hallmarks of CAH, particularly the 21-hydroxylase deficiency form. The steroid panel typically costs around INR 5500. Early diagnosis and treatment of CAH is essential to prevent complications and improve outcomes. If you or your child has symptoms of CAH, talk to your healthcare provider about the possibility of testing for the condition, including a steroid panel.

This assay helps to differentiate 4 common enzyme deficiencies of CAH viz., 21-Hydroxylase, 11?ý-Hydroxylase, 17-Hydroxylase & 3-Hydroxysteroid Dehydrogenase deficiencies. Steroid profiling by LC-MS/MS improves the positive predictive value of newborn screening for Congenital Adrenal Hyperplasia.