Short Description

NGS genetic DNA test detecets for variant and mutation detection in SEMA3A gene for Kallmann syndrome, SEMA3A related

PreTest Information

Clinical History of Patient who is going for SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic DNA Test gene SEMA3A

Detail Description

SEMA3A Gene and Kallmann Syndrome: Understanding the Symptoms and Diagnosis

Kallmann syndrome is a rare genetic disorder characterized by delayed or absent puberty and an impaired sense of smell. It affects both males and females, and is caused by mutations in various genes, including SEMA3A. SEMA3A is a gene that encodes a protein involved in the development of the nervous system.

Individuals with Kallmann syndrome have a deficiency of gonadotropin-releasing hormone (GnRH), which is responsible for the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). This leads to a lack of sex hormone production and delayed puberty. In addition, Kallmann syndrome is often accompanied by anosmia, the loss of the sense of smell.

Symptoms of Kallmann Syndrome

The symptoms of Kallmann syndrome can vary depending on the severity of the condition, but they typically include:

• Delayed or absent puberty
• Impaired sense of smell (anosmia)
• Abnormal eye movements (nystagmus)
• Cleft palate
• Hearing loss
• Abnormal tooth development

It is important to note that not all individuals with Kallmann syndrome will have all of these symptoms.

Diagnosis of Kallmann Syndrome

Kallmann syndrome is diagnosed through a combination of physical exams and laboratory tests. A thorough medical history and physical examination will be performed to assess the symptoms and look for any physical abnormalities.

Lab tests will include hormone level measurements, genetic testing, and olfactory function tests to determine the severity of the condition and identify any underlying genetic mutations. Genetic testing is particularly important in the diagnosis of Kallmann syndrome, as it can identify mutations in genes such as SEMA3A.

SEMA3A Related NGS Genetic DNA Test Cost

The cost of SEMA3A related NGS genetic DNA testing in India is approximately INR 20,000. This test can identify mutations in the SEMA3A gene, which can help with the diagnosis of Kallmann syndrome.

Conclusion

Kallmann syndrome is a rare genetic disorder that can have a significant impact on an individual's physical and emotional well-being. Symptoms can vary, but typically include delayed or absent puberty and an impaired sense of smell. Diagnosis is achieved through a combination of physical exams and laboratory tests, including genetic testing for mutations in genes such as SEMA3A. The cost of SEMA3A related NGS genetic DNA testing in India is approximately INR 20,000.

If you or a loved one are experiencing symptoms of Kallmann syndrome, it is important to seek medical attention and undergo diagnostic testing. Early diagnosis and treatment can help manage symptoms and improve quality of life.

For more information on genetic testing and Kallmann syndrome, contact DNA Labs India today.

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 SEMA3A Gene Kallmann syndrome, SEMA3A related NGS Genetic DNA Test