Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHST3 gene for Spondyloepiphyseal dysplasia with congenital joint dislocations

PreTest Information

Clinical History of Patient who is going for CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic DNA Test gene CHST3

Detail Description

CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Spondyloepiphyseal dysplasia with congenital joint dislocations is a rare genetic disorder that affects the bones and joints. This disorder is caused by mutations in the CHST3 gene, which provides instructions for making an enzyme called chondroitin 6-O-sulfotransferase-1. This enzyme is involved in the production of a type of cartilage called hyaline cartilage, which is found in the joints and the growth plates of the bones.

Spondyloepiphyseal dysplasia with congenital joint dislocations can cause a range of symptoms, including:

• Short stature
• Joint pain and stiffness
• Joint dislocations
• Abnormal curvature of the spine
• Delayed motor development
• Abnormal gait
• Flat feet
• Eye problems

The symptoms of this disorder can vary widely, even among members of the same family who have the same genetic mutation. Some people with spondyloepiphyseal dysplasia with congenital joint dislocations may have only mild symptoms, while others may have severe symptoms that affect their daily lives.

To diagnose spondyloepiphyseal dysplasia with congenital joint dislocations, doctors may use a variety of tests, including:

• X-rays
• Magnetic resonance imaging (MRI)
• Genetic testing

Genetic testing is the most reliable way to diagnose spondyloepiphyseal dysplasia with congenital joint dislocations. Specifically, a type of genetic testing called next-generation sequencing (NGS) can be used to identify mutations in the CHST3 gene. This test analyzes the DNA in a person's blood or other tissue to look for changes in the CHST3 gene.

The cost of an NGS genetic DNA test for spondyloepiphyseal dysplasia with congenital joint dislocations in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or testing facility that is used.

If you or a loved one is experiencing symptoms of spondyloepiphyseal dysplasia with congenital joint dislocations, it is important to seek medical attention. A healthcare professional can evaluate your symptoms and recommend appropriate testing or treatment options.

Overall, spondyloepiphyseal dysplasia with congenital joint dislocations is a rare but serious genetic disorder that can cause a range of symptoms. Genetic testing using next-generation sequencing can help diagnose this disorder, and the cost of this test in India is typically around INR 20,000.