IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test
Introduction
The IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool used to identify mutations in the IDUA gene, which are responsible for Hurler-Scheie syndrome, a type of metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive genetic information, enabling healthcare providers to make informed decisions regarding patient care.
What the Test Measures
This genetic test measures the presence of mutations in the IDUA gene, which encodes the enzyme alpha-L-iduronidase. Deficiencies in this enzyme lead to the accumulation of glycosaminoglycans, resulting in various health issues characteristic of Hurler-Scheie syndrome.
Who Should Consider This Test
Individuals who exhibit symptoms of Hurler-Scheie syndrome, such as skeletal abnormalities, cardiovascular issues, and cognitive impairments, should consider this test. Additionally, those with a family history of metabolic disorders or genetic predispositions may benefit from early testing.
Benefits of Taking the Test
- Early diagnosis and intervention strategies.
- Personalized treatment plans based on genetic findings.
- Informed family planning through genetic counseling.
- Access to specialized care and support resources.
Understanding Your Results
Results from the IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test will be interpreted by qualified geneticists. A positive result indicates the presence of a mutation in the IDUA gene, which may necessitate further clinical evaluation and management. Negative results can provide reassurance but do not completely rule out the disorder.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or even a drop of blood on an FTA card. It is essential to provide a clinical history and undergo a genetic counseling session to create a pedigree chart for affected family members prior to testing.
Book Your Test Today!
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. To book the IDUA Gene Hurler-Scheie Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254746849631. Take the first step towards understanding your genetic health today!
