Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP21A2 gene for Adrenal hyperplasia due to 21-hydroxylase deficiency

PreTest Information

Clinical History of Patient who is going for CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adrenal hyperplasia due to 21-hydroxylase deficiency

Detail Description

CYP21A2 Gene: Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic DNA Test

CYP21A2 gene is responsible for encoding the 21-hydroxylase enzyme, which is crucial in the production of cortisol and aldosterone hormones in the adrenal gland. Adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive genetic disorder that affects the adrenal gland's ability to produce these hormones. This deficiency causes the accumulation of precursors to these hormones, which leads to the production of androgens, causing masculinization of external genitalia in females and early puberty in both sexes.

NGS genetic DNA test is a diagnostic test that analyzes the CYP21A2 gene's sequence to detect any mutations or abnormalities that may cause adrenal hyperplasia due to 21-hydroxylase deficiency. This test is essential in identifying the cause of the disorder and the appropriate treatment plan.

Symptoms of Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The symptoms of adrenal hyperplasia due to 21-hydroxylase deficiency may vary depending on the severity of the disorder. The common symptoms include:

• Abnormal genitalia development in females
• Early puberty in both sexes
• Excessive body hair growth
• Acne
• Irregular menstrual periods in females
• Infertility in females
• Decreased fertility in males
• Low blood pressure
• Dehydration
• Electrolyte imbalances
• Salt cravings

Diagnosis of Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

The diagnosis of adrenal hyperplasia due to 21-hydroxylase deficiency may involve several tests, including:

• Physical examination to check for abnormal genitalia development in females and early puberty in both sexes
• Blood tests to measure the levels of cortisol, aldosterone, and androgens
• ACTH stimulation test to measure the adrenal gland's response to the adrenocorticotropic hormone (ACTH)
• Genetic testing to identify any mutations or abnormalities in the CYP21A2 gene

NGS Genetic DNA Test Cost

The cost of the NGS genetic DNA test for adrenal hyperplasia due to 21-hydroxylase deficiency may vary depending on the laboratory and the location. In India, the cost of this test may range from INR 15,000 to INR 25,000.

Conclusion

Adrenal hyperplasia due to 21-hydroxylase deficiency is a genetic disorder that affects the adrenal gland's ability to produce cortisol and aldosterone hormones. The NGS genetic DNA test is a diagnostic tool that can identify any mutations or abnormalities in the CYP21A2 gene, which is responsible for encoding the 21-hydroxylase enzyme. Early diagnosis and appropriate treatment plan can help manage the symptoms of this disorder.

If you suspect that you or your child may have adrenal hyperplasia due to 21-hydroxylase deficiency, consult a doctor immediately and ask about the NGS genetic DNA test.