Short Description

NGS genetic DNA test detecets for variant and mutation detection in AMHR2 gene for Persistent Mullerian duct syndrome type 2

PreTest Information

Clinical History of Patient who is going for AMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AMHR2 Gene Persistent Mullerian duct syndrome type 2 NGS Genetic DNA Test gene AMHR2

Detail Description

Understanding AMHR2 Gene and Persistent Mullerian Duct Syndrome Type 2

The AMHR2 gene is responsible for coding the anti-Mullerian hormone (AMH) receptor type 2 protein. This protein plays a critical role in the development of the reproductive system in both males and females. When the AMHR2 gene is mutated, it can lead to a condition known as Persistent Mullerian Duct Syndrome Type 2 (PMDS2).

PMDS2 is a rare genetic disorder that affects the development of the reproductive system in males. In normal development, the Mullerian ducts, which are responsible for the development of female reproductive organs, are suppressed by AMH. However, in males with PMDS2, the Mullerian ducts persist and can develop into female reproductive organs, such as the uterus and fallopian tubes.

Symptoms of PMDS2

The symptoms of PMDS2 can vary depending on the severity of the condition. In some cases, there may be no symptoms at all. However, in more severe cases, the following symptoms may be present:

• Undescended testicles
• Absent or underdeveloped prostate gland
• Presence of female reproductive organs
• Infertility
• Ambiguous genitalia

Diagnosis of PMDS2

PMDS2 is typically diagnosed in infancy or early childhood. A physical exam may reveal the presence of female reproductive organs or ambiguous genitalia. Blood tests may also be performed to check for hormone levels. In some cases, imaging tests, such as an ultrasound or MRI, may be used to visualize the reproductive organs.

NGS Genetic DNA Test for PMDS2

A Next-Generation Sequencing (NGS) genetic DNA test can be used to diagnose PMDS2. This test analyzes the DNA sequence of the AMHR2 gene to identify any mutations or abnormalities. The test can be performed using a blood sample or a cheek swab and typically costs around INR 20,000.

Conclusion

PMDS2 is a rare genetic disorder that affects the development of the reproductive system in males. It can lead to the development of female reproductive organs and infertility. A NGS genetic DNA test can be used to diagnose PMDS2 and costs around INR 20,000. If you or a loved one is experiencing symptoms of PMDS2, it is important to seek medical attention and genetic testing.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA tests for PMDS2. Our team of experienced genetic counselors and scientists can help you understand your test results and provide guidance on next steps. Contact us today to learn more.