Short Description

List of genes tested using NGS technology for detection of variant and mutation in Congenital adrenal hyperplasia Panel are CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR

PreTest Information

Clinical History of Patient who is going for Congenital adrenal hyperplasia Panel NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, STAR

Detail Description

Congenital Adrenal Hyperplasia Panel NGS Genetic DNA Test

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal gland's ability to produce hormones that regulate various body functions. CAH is caused by mutations in genes that encode for enzymes involved in the production of steroid hormones, including cortisol and aldosterone.

The CAH Panel NGS Genetic DNA Test is a diagnostic tool that uses Next-Generation Sequencing (NGS) technology to analyze multiple genes associated with CAH. This test can identify genetic variations that cause CAH and provide a definitive diagnosis.

Symptoms of CAH

The symptoms of CAH vary depending on the type and severity of the condition. The most common symptoms include:

• Abnormal genitalia in females
• Early onset of puberty in both sexes
• Excessive hair growth in females
• Failure to thrive in infants
• Hypertension
• Irregular menstrual periods in females
• Muscle weakness and fatigue

CAH can also lead to other health problems, including infertility, osteoporosis, and adrenal crisis, which is a life-threatening condition that requires immediate medical attention.

Diagnosis of CAH

Diagnosing CAH typically involves a combination of physical examination, blood tests, and genetic testing. Blood tests can measure the levels of hormones produced by the adrenal gland, which can help identify abnormalities. Genetic testing can confirm the diagnosis and identify the specific genetic mutations that cause CAH.

Cost of CAH Panel NGS Genetic DNA Test

The cost of the CAH Panel NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

The CAH Panel NGS Genetic DNA Test is an important diagnostic tool for identifying the genetic mutations that cause CAH. Early diagnosis and treatment can help manage symptoms and prevent serious health problems. If you suspect that you or your child may have CAH, talk to your doctor about getting tested.

At DNA Labs India, we offer a wide range of genetic tests, including the CAH Panel NGS Genetic DNA Test. Contact us today to learn more.