Short Description

NGS genetic DNA test detecets for variant and mutation detection in POR gene for Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

PreTest Information

Clinical History of Patient who is going for POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Detail Description

POR Gene Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare genetic condition that affects the adrenal glands. It is caused by a mutation in the POR gene, which encodes for an enzyme that is involved in the production of steroid hormones in the adrenal glands. This condition can lead to a variety of symptoms, including abnormal genital development in females, early puberty in males, and adrenal insufficiency.

Symptoms of Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency

The symptoms of adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency can vary depending on the severity of the condition. In females, it can cause abnormal genital development, including an enlarged clitoris, fused labia, and an absent or small uterus. In males, it can cause early puberty, including the development of pubic hair, enlargement of the penis and testicles, and deepening of the voice. Both males and females can experience adrenal insufficiency, which can cause fatigue, weakness, weight loss, and dehydration.

Diagnosis of Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency

Diagnosis of adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is typically done through genetic testing. A NGS genetic DNA test can be used to identify mutations in the POR gene. This test is performed using a blood sample or cheek swab and can be done at a genetic testing laboratory.

Cost of NGS Genetic DNA Test for Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency

The cost of a NGS genetic DNA test for adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency can vary depending on the laboratory performing the test. In India, the cost of this test is typically around INR 20,000.

Conclusion

Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare genetic condition that can lead to a variety of symptoms. Diagnosis is typically done through genetic testing, and the cost of a NGS genetic DNA test for this condition is around INR 20,000 in India. If you or a loved one is experiencing symptoms of adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, it is important to speak with a healthcare provider to discuss testing and treatment options.

At DNA Labs India, we offer a variety of genetic testing services, including NGS genetic DNA testing for adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for POR Gene Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency NGS Genetic DNA Test