Short Description

NGS genetic DNA test detecets for variant and mutation detection in SKI gene for Shprintzen-Goldberg syndrome

PreTest Information

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

Detail Description

SKi Gene Shprintzen-Goldberg Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Shprintzen-Goldberg Syndrome (SGS) is a rare genetic disorder that affects many parts of the body. It is also known as Marfanoid-Craniosynostosis Syndrome or Marden-Walker Syndrome. The genetic cause of SGS is a mutation in the SKi gene. SKi gene mutations can be detected through Next-Generation Sequencing (NGS) Genetic DNA testing. In this blog, we will discuss the symptoms and diagnosis of Shprintzen-Goldberg Syndrome and the cost of SKi Gene NGS Genetic DNA Test in India.

What are the Symptoms of Shprintzen-Goldberg Syndrome?

Shprintzen-Goldberg Syndrome affects various parts of the body, including the skeletal system, cardiovascular system, and nervous system. Some common symptoms of SGS are:

• Abnormal curvature of the spine (scoliosis)
• Joint hypermobility
• Arachnodactyly (long, slender fingers)
• High, narrow palate and dental crowding
• Myopia (nearsightedness) and other eye problems
• Heart problems, such as aortic aneurysm or mitral valve prolapse
• Developmental delay and intellectual disability
• Anxiety and behavioral problems

How is Shprintzen-Goldberg Syndrome Diagnosed?

Diagnosis of Shprintzen-Goldberg Syndrome is based on clinical features, family history, and genetic testing. A thorough physical examination can reveal many of the characteristic features of SGS. Imaging tests, such as X-rays, CT scans, and MRI scans, can help detect skeletal abnormalities and other structural anomalies. Genetic testing can confirm the diagnosis of SGS by identifying mutations in the SKi gene.

What is SKi Gene NGS Genetic DNA Test?

SKi Gene NGS Genetic DNA Test is a type of genetic testing that uses Next-Generation Sequencing technology to analyze the DNA sequence of the SKi gene. This test can detect mutations in the SKi gene that are associated with Shprintzen-Goldberg Syndrome. NGS Genetic DNA Testing is a highly accurate and sensitive method of genetic testing that can detect even small genetic changes in the DNA.

What is the Cost of SKi Gene NGS Genetic DNA Test in India?

The cost of SKi Gene NGS Genetic DNA Test in India varies depending on the laboratory and location. On average, the cost of this test ranges from INR 15,000 to INR 25,000. DNA Labs India offers SKi Gene NGS Genetic DNA Test at an affordable price of INR 20,000, making it accessible to more people who need genetic testing for Shprintzen-Goldberg Syndrome.

Conclusion

Shprintzen-Goldberg Syndrome is a rare genetic disorder that can cause a variety of symptoms affecting different body systems. Genetic testing, such as SKi Gene NGS Genetic DNA Test, can help diagnose SGS by detecting mutations in the SKi gene. The cost of SKi Gene NGS Genetic DNA Test in India is affordable at INR 20,000, making it a valuable tool for the diagnosis of SGS. If you or a loved one is experiencing symptoms of Shprintzen-Goldberg Syndrome, talk to a doctor about genetic testing options.

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 SKI Gene Shprintzen-Goldberg syndrome NGS Genetic DNA Test