Short Description

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

PreTest Information

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

Detail Description

IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

• About
• Symptoms
• Diagnosis
• Cost

About IDUA Gene Hurler-Scheie Syndrome

IDUA gene Hurler-Scheie syndrome is a rare genetic disorder that affects the body's ability to break down certain sugars. It is caused by a mutation in the IDUA gene, which provides instructions for making an enzyme called alpha-L-iduronidase. Without this enzyme, the body cannot break down complex sugars called glycosaminoglycans (GAGs), which then accumulate in the body's cells and tissues, leading to a range of symptoms.

Hurler-Scheie syndrome is a milder form of Hurler syndrome, which is also caused by a mutation in the IDUA gene. Hurler-Scheie syndrome is sometimes referred to as MPS-IHS.

Symptoms of IDUA Gene Hurler-Scheie Syndrome

The symptoms of IDUA gene Hurler-Scheie syndrome can vary widely from person to person, and can range from mild to severe. Some common symptoms include:

• Coarse facial features
• Enlarged liver and spleen
• Joint stiffness and pain
• Abnormal bone growth
• Heart and lung problems
• Vision and hearing loss
• Mental and developmental delays

Diagnosis of IDUA Gene Hurler-Scheie Syndrome

The diagnosis of IDUA gene Hurler-Scheie syndrome is typically made through a combination of physical exams, medical history, and genetic testing. Genetic testing, such as NGS (Next Generation Sequencing), can detect mutations in the IDUA gene and confirm a diagnosis of Hurler-Scheie syndrome.

Other tests that may be used to diagnose Hurler-Scheie syndrome include blood and urine tests to check for elevated levels of GAGs, X-rays to look for bone abnormalities, and echocardiograms to check for heart problems.

Cost of IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test

DNA Labs India offers IDUA gene Hurler-Scheie syndrome NGS genetic DNA test at INR 20000. This test can detect mutations in the IDUA gene and confirm a diagnosis of Hurler-Scheie syndrome.

If you suspect that you or a loved one may have Hurler-Scheie syndrome, it is important to speak with a healthcare provider and undergo genetic testing to confirm the diagnosis and receive appropriate treatment.