Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSPG2 gene for Schwartz-Jampel syndrome type 1

PreTest Information

Clinical History of Patient who is going for HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Schwartz-Jampel syndrome type 1

Detail Description

HSPG2 Gene and Schwartz-Jampel Syndrome Type 1: NGS Genetic DNA Test Cost INR 20,000

Understanding the role of genes in human health has become a crucial area of research in recent times. Genetic testing and analysis can help identify genetic disorders, their diagnosis, and treatment. Among various genetic disorders, Schwartz-Jampel syndrome type 1 (SJS1) is a rare genetic disorder characterized by skeletal abnormalities and muscle stiffness. The HSPG2 gene is responsible for the condition, and a genetic test can help diagnose it. This blog discusses the HSPG2 gene, SJS1, its symptoms, diagnosis, and the cost of NGS genetic DNA testing in India.

The HSPG2 Gene

The HSPG2 gene encodes for a protein called Perlecan, which is a critical component of the extracellular matrix in many tissues. The extracellular matrix provides structural support to cells and helps regulate cell behavior. Mutations in the HSPG2 gene can cause the Perlecan protein to be abnormal, leading to SJS1.

Schwartz-Jampel Syndrome Type 1

Schwartz-Jampel syndrome type 1 (SJS1) is a rare genetic disorder characterized by skeletal abnormalities and muscle stiffness. It is caused by mutations in the HSPG2 gene, which leads to the abnormal formation of the Perlecan protein. The symptoms of SJS1 usually appear in early childhood and can vary in severity. The most common symptoms include:

• Muscle stiffness and weakness
• Joint contractures
• Short stature
• Scoliosis
• Abnormal facial features

Diagnosis of SJS1

Diagnosis of SJS1 is based on a combination of clinical features, genetic testing, and imaging studies. The initial evaluation includes a physical examination, medical history, and family history. If SJS1 is suspected, genetic testing can be done to confirm the diagnosis. Next-generation sequencing (NGS) genetic DNA testing can detect mutations in the HSPG2 gene, which are responsible for SJS1. Imaging studies, such as X-rays, can be done to evaluate skeletal abnormalities. Early diagnosis and intervention can help manage the symptoms and improve the quality of life of individuals with SJS1.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India for SJS1 is approximately INR 20,000. The cost may vary depending on the laboratory or the testing facility. However, genetic testing is a valuable tool in diagnosing genetic disorders and can help individuals and families make informed decisions regarding their health.

Conclusion

The HSPG2 gene is responsible for Schwartz-Jampel syndrome type 1, a rare genetic disorder characterized by skeletal abnormalities and muscle stiffness. Genetic testing, such as NGS genetic DNA testing, can help diagnose SJS1 and aid in early intervention. The cost of NGS genetic DNA testing in India for SJS1 is approximately INR 20,000. Early diagnosis and intervention can help manage the symptoms and improve the quality of life of individuals with SJS1.

At DNA Labs India, we provide NGS genetic DNA testing for Schwartz-Jampel syndrome type 1 and various other genetic disorders. Our state-of-the-art laboratory and experienced technicians ensure accurate and reliable results. Contact us to learn more about our genetic testing services.

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 HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic DNA Test