Short Description

NGS genetic DNA test detecets for variant and mutation detection in FGFR1 gene for Kallmann syndrome type 2

PreTest Information

Clinical History of Patient who is going for FGFR1 Gene Kallmann syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FGFR1 Gene Kallmann syndrome type 2 NGS Genetic DNA Test gene FGFR1

Detail Description

Understanding Kallmann Syndrome Type 2 and the FGFR1 Gene: NGS Genetic DNA Test Cost and More

Kallmann Syndrome Type 2 is a rare genetic disorder that affects the development of the reproductive system and the sense of smell. It is caused by mutations in the FGFR1 gene, which provides instructions for making a protein that plays a crucial role in the formation of nerve cells and the development of the gonads.

If you or someone you know is experiencing symptoms of Kallmann Syndrome Type 2, it is important to get a proper diagnosis through genetic testing. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for Kallmann Syndrome Type 2.

Symptoms of Kallmann Syndrome Type 2

Kallmann Syndrome Type 2 is characterized by two main symptoms:

• Delayed or absent puberty
• Anosmia (loss of sense of smell)

Other symptoms may include:

• Infertility
• Reduced muscle mass
• Decreased bone density
• Abnormal facial features

It is important to note that not all individuals with Kallmann Syndrome Type 2 will experience all of these symptoms.

Diagnosis of Kallmann Syndrome Type 2

Kallmann Syndrome Type 2 is diagnosed through genetic testing. This involves analyzing a person's DNA to look for mutations in the FGFR1 gene.

Other tests may also be done to confirm the diagnosis and assess the extent of the condition. These may include:

• Blood tests to check hormone levels
• Imaging tests to evaluate the reproductive system
• Smell tests to assess anosmia

NGS Genetic DNA Test Cost for Kallmann Syndrome Type 2

Next-generation sequencing (NGS) is a powerful technology that allows for the analysis of multiple genes at once. It is often used for genetic testing of rare disorders like Kallmann Syndrome Type 2.

The NGS genetic DNA test cost for Kallmann Syndrome Type 2 can vary depending on the laboratory and the specific test being performed. At DNA Labs India, we offer a comprehensive NGS panel for Kallmann Syndrome Type 2 that includes analysis of the FGFR1 gene and other genes associated with the disorder. The cost for this test is INR 20,000.

Conclusion

Kallmann Syndrome Type 2 is a rare genetic disorder that can have significant impacts on reproductive health and sense of smell. If you or someone you know is experiencing symptoms of Kallmann Syndrome Type 2, it is important to seek a proper diagnosis through genetic testing. The NGS genetic DNA test cost for Kallmann Syndrome Type 2 at DNA Labs India is INR 20,000, and our comprehensive panel includes analysis of the FGFR1 gene and other associated genes.

Contact us today to learn more about our testing services.