Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLI3 gene for Pallister-Hall syndrome

PreTest Information

Clinical History of Patient who is going for GLI3 Gene Pallister-Hall syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GLI3 Gene Pallister-Hall syndrome NGS Genetic DNA Test gene GLI3

Detail Description

Understanding GLI3 Gene and Pallister-Hall Syndrome: Cost of NGS Genetic DNA Test in India

Pallister-Hall Syndrome (PHS) is a rare genetic disorder that affects multiple organs in the body. It is caused by mutations in the GLI3 gene, which provides instructions for making a protein that is essential for the development of various body parts. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated GLI3 gene from either parent to develop PHS.

PHS is characterized by a wide range of symptoms, which can vary greatly in severity and manifestation. Some of the most common symptoms of PHS include:

• Extra fingers or toes (polydactyly)
• Abnormal growths in the hypothalamus (hypothalamic hamartomas)
• Malformations in the airways (tracheal stenosis)
• Abnormalities in the development of the anus and rectum (imperforate anus)
• Abnormalities in the development of the kidneys (renal anomalies)

Diagnosing PHS can be challenging, as its symptoms can overlap with those of other genetic disorders. However, one of the most reliable ways to confirm a diagnosis of PHS is through genetic testing. Specifically, Next-Generation Sequencing (NGS) technology can be used to sequence the GLI3 gene and identify any mutations that may be causing PHS.

In India, the cost of an NGS genetic DNA test for PHS can range from INR 15,000 to INR 25,000, depending on the specific laboratory and test being used. However, this cost may be covered by health insurance if the patient has a policy that covers genetic testing.

If you suspect that you or a loved one may have PHS, it is important to speak with a genetic counselor or healthcare professional who can provide guidance and support. With the help of genetic testing, a proper diagnosis can be made, and appropriate treatment and management can be provided to improve quality of life.

At DNA Labs India, we offer NGS genetic DNA testing services for a wide range of genetic disorders, including PHS. Our team of experienced genetic counselors and healthcare professionals can work with you to provide personalized testing and support that meets your unique needs. Contact us today to learn more about our services and how we can help you.