IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test
Introduction
The IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the IDUA gene, which are responsible for Mucopolysaccharidosis Type 1H (MPS I-H), a rare metabolic disorder. This test utilizes Next Generation Sequencing (NGS) technology to provide comprehensive insights into genetic variations that may lead to this condition.
What the Test Measures
This genetic test detects specific mutations in the IDUA gene that can result in the deficiency of the enzyme alpha-L-iduronidase. This enzyme deficiency leads to the accumulation of glycosaminoglycans in the body, causing various health issues associated with MPS I-H.
Who Should Consider This Test?
Individuals who exhibit symptoms such as joint stiffness, developmental delays, and organ enlargement should consider this test. Additionally, those with a family history of metabolic disorders or MPS I-H are encouraged to seek testing, especially if they have a clinical history suggesting the possibility of this condition.
Benefits of Taking the Test
- Early detection of MPS I-H allows for timely intervention and management.
- Provides clarity for families with a history of genetic disorders.
- Guides treatment options and future family planning.
- Utilizes advanced NGS technology for accurate results.
Understanding Your Results
Results from the IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test will be provided in a detailed report. A genetic counseling session is recommended to help interpret the findings and discuss potential implications for health management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Our test has a turnaround time of 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card. It is important to have a clinical history prepared prior to testing, and a genetic counseling session is advised to create a pedigree chart of affected family members.
Book Your Test Today
We have branches across all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and more. For your convenience, we also offer home sample collection services. To book the IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test, please call or WhatsApp us at +254746849631.
