Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHD7 gene for Kallmann syndrome type 5

PreTest Information

Clinical History of Patient who is going for CHD7 Gene Kallmann syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHD7 Gene Kallmann syndrome type 5 NGS Genetic DNA Test gene CHD7

Detail Description

CHD7 Gene Kallmann Syndrome Type 5 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Kallmann Syndrome Type 5 is a genetic disorder that affects the development of the olfactory system and sexual maturation. It is caused by a mutation in the CHD7 gene, which provides instructions for making a protein that helps regulate gene expression during development. This syndrome can be diagnosed through NGS genetic DNA testing, which can cost INR 20,000 in India.

Symptoms of Kallmann Syndrome Type 5

The symptoms of Kallmann Syndrome Type 5 can vary greatly from person to person, but typically include:

• Delayed or absent puberty
• Lack of sense of smell or reduced sense of smell
• Abnormal development of reproductive organs
• Small sex organs
• Infertility
• Abnormal facial features

These symptoms can be present at birth, or may not appear until later in life. In some cases, individuals with Kallmann Syndrome Type 5 may have additional medical problems, such as hearing loss or developmental delays.

Diagnosis of Kallmann Syndrome Type 5

The diagnosis of Kallmann Syndrome Type 5 is typically made through a combination of physical examination, medical history, and genetic testing. A doctor may perform a physical exam to look for signs of delayed puberty or abnormal facial features. They may also ask about family history and conduct blood tests to check hormone levels.

Genetic testing, such as NGS genetic DNA testing, can confirm the diagnosis of Kallmann Syndrome Type 5. This type of testing can detect mutations in the CHD7 gene that cause the syndrome. NGS genetic DNA testing can be done on a blood or saliva sample, and typically takes a few weeks for results to come back.

Cost of NGS Genetic DNA Testing in India

NGS genetic DNA testing for Kallmann Syndrome Type 5 can cost around INR 20,000 in India. This cost may vary depending on the specific testing facility and any additional tests that may be needed. It is important to check with your insurance provider to see if genetic testing is covered under your policy.

Conclusion

Kallmann Syndrome Type 5 is a genetic disorder caused by a mutation in the CHD7 gene. Symptoms can include delayed or absent puberty, lack of sense of smell, and abnormal development of reproductive organs. NGS genetic DNA testing can confirm the diagnosis of Kallmann Syndrome Type 5, and can cost around INR 20,000 in India. If you or a loved one is experiencing symptoms of this syndrome, it is important to speak with a healthcare provider to determine the best course of action.

At DNA Labs India, we offer NGS genetic DNA testing for Kallmann Syndrome Type 5. Our team of experienced genetic counselors and laboratory professionals can provide accurate and reliable testing results. Contact us today to learn more about our services.