Short Description

NGS genetic DNA test detecets for variant and mutation detection in IDUA gene for Mucopolysaccharidosis type 1H

PreTest Information

Clinical History of Patient who is going for IDUA Gene Mucopolysaccharidosis type 1H NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Mucopolysaccharidosis type 1H

Detail Description

IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test

Mucopolysaccharidosis type 1H is a rare genetic disorder that affects the body's ability to break down complex sugars called glycosaminoglycans. This disorder is caused by mutations in the IDUA gene, which provides instructions for producing the enzyme alpha-L-iduronidase. This enzyme is responsible for breaking down glycosaminoglycans in the body.

Individuals with mucopolysaccharidosis type 1H have a deficiency of alpha-L-iduronidase, which leads to an accumulation of glycosaminoglycans in the body's tissues and organs. This buildup can cause a wide range of symptoms, including:

• Coarse facial features
• Enlarged liver and spleen
• Joint stiffness and pain
• Abnormal bone growth
• Heart disease
• Developmental delays

If left untreated, mucopolysaccharidosis type 1H can lead to severe disability and a shortened lifespan.

Diagnosis

Mucopolysaccharidosis type 1H can be diagnosed through a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical testing involves analyzing the levels of glycosaminoglycans in a person's urine or blood. Genetic testing involves sequencing the IDUA gene to identify any mutations that may be causing the disorder.

NGS Genetic DNA Test

NGS (Next-Generation Sequencing) genetic DNA testing is a powerful tool for identifying genetic mutations associated with rare disorders like mucopolysaccharidosis type 1H. This test involves sequencing the entire IDUA gene to identify any mutations that may be causing the disorder.

NGS genetic DNA testing is a highly accurate and efficient way to diagnose mucopolysaccharidosis type 1H. This test can identify mutations in the IDUA gene even if they are very rare or located in non-coding regions of the gene.

Cost of NGS Genetic DNA Test

The cost of NGS genetic DNA testing for mucopolysaccharidosis type 1H in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the level of testing required.

Conclusion

Mucopolysaccharidosis type 1H is a rare genetic disorder that can cause a wide range of symptoms and severe disability if left untreated. NGS genetic DNA testing is a highly accurate and efficient way to diagnose this disorder and identify any mutations in the IDUA gene that may be causing it. While the cost of this test may vary, it is an important investment in the health and wellbeing of individuals with mucopolysaccharidosis type 1H.

If you suspect that you or a loved one may have mucopolysaccharidosis type 1H, it is important to seek medical attention and discuss the possibility of genetic testing with a qualified healthcare provider.

At DNA Labs India, we offer NGS genetic DNA testing for mucopolysaccharidosis type 1H and a wide range of other genetic disorders. Our team of experienced professionals is dedicated to providing accurate and timely genetic testing services to help individuals and families get the answers they need to make informed healthcare decisions.

Contact us today to learn more about our NGS genetic DNA 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 Mucopolysaccharidosis type 1H NGS Genetic DNA Test