Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCNH1 gene for Temple-Baraitser syndrome

PreTest Information

Clinical History of Patient who is going for KCNH1 Gene Temple-Baraitser syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KCNH1 Gene Temple-Baraitser syndrome NGS Genetic DNA Test gene KCNH1

Detail Description

KCNH1 Gene Temple-Baraitser Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Temple-Baraitser syndrome (TBS) is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by mutations in the KCNH1 gene and is inherited in an autosomal dominant pattern. TBS is characterized by intellectual disability, developmental delay, seizures, and distinctive facial features.

KCNH1 Gene and Temple-Baraitser Syndrome

The KCNH1 gene provides instructions for making a protein that helps regulate the flow of charged particles (ions) into and out of cells. This protein is important for the normal functioning of nerve cells, including those in the brain. Mutations in the KCNH1 gene can disrupt the normal activity of the protein, leading to the signs and symptoms of Temple-Baraitser syndrome.

Symptoms of Temple-Baraitser Syndrome

Temple-Baraitser syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. The symptoms of TBS can vary widely from person to person, but may include:

• Intellectual disability
• Developmental delay
• Seizures
• Distinctive facial features, including a small head, a small jaw, and low-set ears
• Abnormalities of the hands and feet, such as short fingers and toes, and missing or fused bones
• Abnormal curvature of the spine (scoliosis)

Diagnosis of Temple-Baraitser Syndrome

Temple-Baraitser syndrome is diagnosed based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the KCNH1 gene. Next-generation sequencing (NGS) is a type of genetic test that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like TBS.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA testing for Temple-Baraitser syndrome in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional services that may be required, such as genetic counseling.

Conclusion

Temple-Baraitser syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by mutations in the KCNH1 gene and is inherited in an autosomal dominant pattern. The symptoms of TBS can vary widely from person to person, but may include intellectual disability, developmental delay, seizures, and distinctive facial features. NGS genetic DNA testing can confirm the diagnosis of TBS, and the cost of this testing in India is typically around INR 20,000.

If you suspect that you or a loved one may have Temple-Baraitser syndrome, it is important to consult a healthcare professional for diagnosis and treatment. Genetic counseling may also be helpful for understanding the inheritance pattern of this disorder and making informed decisions about family planning.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for rare genetic disorders like Temple-Baraitser syndrome. Contact us today to learn more about our services and how we can help you.