IDUA Gene Scheie Syndrome NGS Genetic DNA Test
Introduction
The IDUA Gene Scheie Syndrome NGS Genetic DNA Test is a specialized diagnostic test designed to identify mutations in the IDUA gene, which are responsible for Scheie syndrome, a type of metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide precise and comprehensive genetic analysis. Understanding your genetic makeup is crucial for making informed health decisions, especially for those with a family history of metabolic disorders.
What the Test Measures
This test measures the presence of specific mutations in the IDUA gene. These mutations can lead to a deficiency in the enzyme alpha-L-iduronidase, resulting in the accumulation of glycosaminoglycans in the body, which can cause various health issues associated with Scheie syndrome.
Who Should Consider This Test
Individuals who should consider the IDUA Gene Scheie Syndrome NGS Genetic DNA Test include:
- Those with a family history of Scheie syndrome or related metabolic disorders.
- Individuals exhibiting symptoms such as skeletal abnormalities, joint stiffness, or heart problems.
- Patients seeking genetic counseling for family planning purposes.
Benefits of Taking the Test
- Early diagnosis of Scheie syndrome can lead to better management of symptoms.
- Provides essential information for family planning and genetic counseling.
- Helps in understanding the risk of passing the disorder to future generations.
- Facilitates personalized treatment plans based on genetic findings.
Understanding Your Results
Results from the IDUA Gene Scheie Syndrome NGS Genetic DNA Test will indicate whether mutations in the IDUA gene are present. A genetic counselor will help interpret these results, providing clarity on the implications for health and family. It is crucial to understand that a positive result may not necessarily mean the presence of the disorder, but it does indicate an increased risk.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book Your Test
To book the IDUA Gene Scheie Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A genetic counseling session to draw a pedigree chart of family members affected with Scheie syndrome is required.
Take charge of your health today by understanding your genetic risks with the IDUA Gene Scheie Syndrome NGS Genetic DNA Test.
