IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test
Introduction to the Test
The IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test is a vital diagnostic tool used to detect genetic mutations associated with Mucopolysaccharidosis type 1H (MPS I H). This condition is a rare metabolic disorder caused by the deficiency of the enzyme alpha-L-iduronidase, leading to the accumulation of glycosaminoglycans in the body. Early diagnosis through this test is crucial for effective management and treatment.
What the Test Measures
This genetic test analyzes the IDUA gene for mutations that cause MPS I H. By employing Next Generation Sequencing (NGS) technology, the test provides a comprehensive assessment of the genetic material, ensuring accurate detection of any abnormalities.
Who Should Consider This Test?
The IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test is recommended for individuals who exhibit symptoms such as:
- Developmental delays
- Joint stiffness
- Enlarged organs (hepatosplenomegaly)
- Facial features resembling those of MPS I H
Additionally, family members of diagnosed individuals may also benefit from this test to assess their risk of carrying the gene mutation.
Benefits of Taking the Test
Undergoing the IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test offers numerous advantages:
- Early diagnosis allows for timely treatment interventions.
- Identifies carriers of the genetic mutation, aiding family planning.
- Provides essential information for clinical management and monitoring.
- Offers peace of mind for patients and their families.
Understanding Your Results
Interpreting the results of the IDUA Gene test requires professional guidance. A genetic counselor will help you understand the implications of your results, including the likelihood of developing MPS I H and the necessary steps for management if a mutation is detected.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test | 400,000 | 560,000 |
Booking the Test
To book the IDUA Gene Mucopolysaccharidosis Type 1H NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with any inquiries and help you through the booking process.
Turnaround Time and Sample Type
The expected turnaround time for results is approximately 3 to 4 weeks. We accept samples of blood, extracted DNA, or one drop of blood on an FTA card.
Pre-Test Instructions
Before taking the test, it is essential to have a clinical history of the patient and attend a genetic counseling session to create a pedigree chart of family members affected by Mucopolysaccharidosis type 1H.
Take the first step towards understanding your genetic health today!
