Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSD17B3 gene for Pseudohermaphroditism with gynecomastia

PreTest Information

Clinical History of Patient who is going for HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test gene HSD17B3

Detail Description

HSD17B3 Gene Pseudohermaphroditism with Gynecomastia NGS Genetic DNA Test

Individuals who are born with the HSD17B3 gene mutation may have a condition known as pseudohermaphroditism with gynecomastia. This is a rare genetic condition that affects the development of the reproductive organs and can result in ambiguous genitalia, underdeveloped testes, and breast tissue growth in males.

Individuals with this condition may also experience delayed puberty, infertility, and other reproductive issues. The condition is caused by a mutation in the HSD17B3 gene, which is responsible for producing an enzyme that converts testosterone to a more potent androgen called dihydrotestosterone (DHT).

Symptoms of HSD17B3 Gene Pseudohermaphroditism with Gynecomastia

Some of the common symptoms of HSD17B3 gene pseudohermaphroditism with gynecomastia include:

• Ambiguous genitalia at birth
• Underdeveloped testes
• Breast tissue growth in males (gynecomastia)
• Delayed puberty
• Infertility

Diagnosis of HSD17B3 Gene Pseudohermaphroditism with Gynecomastia

Diagnosis of HSD17B3 gene pseudohermaphroditism with gynecomastia typically involves a physical examination, hormone testing, and genetic testing. Hormone testing may be done to measure testosterone and DHT levels, while genetic testing may be done to identify the HSD17B3 gene mutation.

NGS Genetic DNA Test for HSD17B3 Gene Pseudohermaphroditism with Gynecomastia

NGS (Next Generation Sequencing) genetic DNA testing is a powerful tool that can be used to identify mutations in the HSD17B3 gene. This test involves sequencing the entire HSD17B3 gene to identify any mutations that may be present.

The cost of NGS genetic DNA testing for HSD17B3 gene pseudohermaphroditism with gynecomastia in India is typically around INR 20,000.

Conclusion

HSD17B3 gene pseudohermaphroditism with gynecomastia is a rare genetic condition that affects the development of the reproductive organs. Symptoms may include ambiguous genitalia, underdeveloped testes, breast tissue growth in males, delayed puberty, and infertility. Diagnosis typically involves a physical examination, hormone testing, and genetic testing. NGS genetic DNA testing can be used to identify mutations in the HSD17B3 gene and is available in India for around INR 20,000.

If you suspect that you or a loved one may have HSD17B3 gene pseudohermaphroditism with gynecomastia, it is important to consult with a healthcare professional for proper diagnosis and treatment.

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 HSD17B3 Gene Pseudohermaphroditism with gynecomastia NGS Genetic DNA Test