Short Description

NGS genetic DNA test detecets for variant and mutation detection in ANOS1 gene for Kallmann syndrome type 1

PreTest Information

Clinical History of Patient who is going for ANOS1 Gene Kallmann syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ANOS1 Gene Kallmann syndrome type 1 NGS Genetic DNA Test gene ANOS1

Detail Description

ANOS1 Gene and Kallmann Syndrome Type 1: NGS Genetic DNA Test Cost INR 20,000

Kallmann syndrome type 1 is a rare genetic condition that affects the development of the olfactory system and sexual maturation. It is caused by mutations in the ANOS1 gene, which provides instructions for making a protein called anosmin-1. Anosmin-1 is essential for the normal migration of olfactory neurons and the formation of the hypothalamic-pituitary-gonadal axis.

The ANOS1 gene is located on the X chromosome, which means that the condition is X-linked recessive. This means that the condition is more commonly found in males, who only have one X chromosome. Females have two X chromosomes, so they are less likely to develop the condition, as the mutation would need to be present on both X chromosomes.

Symptoms of Kallmann Syndrome Type 1

The symptoms of Kallmann syndrome type 1 can vary, but they typically include:

• Lack of sense of smell (anosmia) or reduced sense of smell (hyposmia)
• Delayed or absent puberty
• Infertility
• Abnormal facial features
• Hearing loss
• Abnormal eye movements

Some people with Kallmann syndrome type 1 may also have additional symptoms, such as developmental delays or intellectual disability.

Diagnosis of Kallmann Syndrome Type 1

Kallmann syndrome type 1 is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect Kallmann syndrome type 1 if a patient has anosmia or hyposmia, delayed puberty, and other symptoms of the condition. Genetic testing can confirm the diagnosis by identifying mutations in the ANOS1 gene.

NGS Genetic DNA Test for Kallmann Syndrome Type 1

The most accurate way to diagnose Kallmann syndrome type 1 is through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can sequence large sections of DNA in a single test. This makes it an efficient and cost-effective way to identify mutations in the ANOS1 gene.

The cost of an NGS genetic DNA test for Kallmann syndrome type 1 in India is approximately INR 20,000. This cost may vary depending on the specific laboratory or clinic that performs the test.

Conclusion

Kallmann syndrome type 1 is a rare genetic condition that can have significant impacts on a person's quality of life. Early diagnosis and treatment can help manage the symptoms of the condition and improve outcomes. An NGS genetic DNA test can accurately diagnose Kallmann syndrome type 1 and is available in India at a cost of approximately INR 20,000.

If you suspect that you or a loved one may have Kallmann syndrome type 1, speak to a healthcare provider about genetic testing options.