Short Description

NGS genetic DNA test detecets for variant and mutation detection in DYNC2H1 gene for Short-rib thoracic dysplasia type 3 with or without polydactyly

PreTest Information

Clinical History of Patient who is going for DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic DNA Test gene DYNC2H1

Detail Description

DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic DNA Test

DYNC2H1 gene Short-rib thoracic dysplasia type 3 with or without polydactyly is a rare genetic disorder that affects the development of bones and other tissues in the body. It is caused by mutations in the DYNC2H1 gene, which provides instructions for making a protein that is important for the movement of cilia. Cilia are tiny, hair-like structures that are found on the surface of many cells in the body and are involved in a variety of functions, including the movement of fluids and the detection of signals from other cells.

The symptoms of Short-rib thoracic dysplasia type 3 with or without polydactyly can vary widely, but may include:

• Short stature
• Abnormal curvature of the spine
• Abnormal development of the ribs and other bones in the chest
• Polydactyly, which is the presence of extra fingers or toes
• Respiratory problems

Diagnosis of Short-rib thoracic dysplasia type 3 with or without polydactyly is typically based on a combination of physical examination, imaging tests, and genetic testing. Genetic testing can confirm the presence of mutations in the DYNC2H1 gene, which is the underlying cause of the disorder.

NGS Genetic DNA testing is a highly accurate and reliable method of genetic testing that can detect mutations in the DYNC2H1 gene. The cost of NGS Genetic DNA testing for Short-rib thoracic dysplasia type 3 with or without polydactyly in India is INR 20,000.

If you or a loved one is experiencing symptoms of Short-rib thoracic dysplasia type 3 with or without polydactyly, it is important to seek medical attention and undergo genetic testing to confirm a diagnosis. With an accurate diagnosis, you can better understand the underlying cause of your symptoms and explore treatment options that may be available.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA testing for Short-rib thoracic dysplasia type 3 with or without polydactyly. Our team of experienced genetic counselors and scientists are dedicated to providing accurate, reliable, and confidential testing services to help you make informed decisions about your health.

Contact us today to learn more about our genetic testing services and how we can help you get the answers you need.