Short Description

NGS genetic DNA test detecets for variant and mutation detection in IDUA gene for Scheie syndrome

PreTest Information

Clinical History of Patient who is going for IDUA Gene Scheie syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Scheie syndrome

Detail Description

Understanding IDUA Gene Scheie Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

IDUA Gene Scheie Syndrome is a rare genetic disorder that affects the body's ability to break down certain sugars. This disorder is caused by mutations in the IDUA gene, which codes for an enzyme called alpha-L-iduronidase. When this enzyme is not functioning properly, it results in the accumulation of certain sugars in the body, leading to various health problems.

Symptoms of IDUA Gene Scheie Syndrome

The symptoms of IDUA Gene Scheie Syndrome can vary widely from person to person. Some individuals may experience mild symptoms, while others may have severe symptoms. The most common symptoms of IDUA Gene Scheie Syndrome include:

• Joint pain and stiffness
• Enlarged liver and spleen
• Heart valve problems
• Vision problems
• Breathing difficulties
• Delayed growth and development

These symptoms can be present from birth or may develop later in life. It is important to note that not all individuals with IDUA Gene Scheie Syndrome will have all of these symptoms.

Diagnosis of IDUA Gene Scheie Syndrome

Diagnosing IDUA Gene Scheie Syndrome can be difficult because it is a rare disorder. However, there are several tests that can be done to help diagnose this condition. These include:

• Physical examination to look for signs of the disorder
• Blood and urine tests to measure the levels of certain sugars
• Genetic testing to look for mutations in the IDUA gene

If a person is diagnosed with IDUA Gene Scheie Syndrome, it is important to work closely with a healthcare team to manage the symptoms and prevent complications.

NGS Genetic DNA Test Cost in India for IDUA Gene Scheie Syndrome

NGS Genetic DNA testing is a powerful tool that can be used to diagnose IDUA Gene Scheie Syndrome. This test is available in India and can be done at various DNA labs. The cost of NGS Genetic DNA testing for IDUA Gene Scheie Syndrome can vary depending on the lab and the location, but typically ranges from INR 20,000 to INR 30,000.

Conclusion

IDUA Gene Scheie Syndrome is a rare genetic disorder that can cause a variety of symptoms. It is important to work closely with a healthcare team to manage the symptoms and prevent complications. NGS Genetic DNA testing is available in India and can be used to diagnose this condition. The cost of this test can vary depending on the lab and location, but typically ranges from INR 20,000 to INR 30,000. If you suspect that you or a loved one may have IDUA Gene Scheie Syndrome, it is important to seek medical attention and get a proper diagnosis.

At DNA Labs India, we provide accurate and reliable NGS Genetic DNA testing services at an affordable cost. Contact us today to learn more about our testing services and how we can help you.

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 IDUA Gene Scheie syndrome NGS Genetic DNA Test