SMPD1 Gene Niemann-Pick Disease Type AB NGS Genetic DNA Test
Introduction
The SMPD1 Gene Niemann-Pick Disease Type AB NGS Genetic DNA Test is an advanced diagnostic tool designed to detect mutations in the SMPD1 gene, which are responsible for Niemann-Pick disease types A and B. This test employs cutting-edge Next Generation Sequencing (NGS) technology to provide precise genetic insights, crucial for early diagnosis and management of this rare metabolic disorder.
What the Test Measures
This genetic test measures specific mutations in the SMPD1 gene, which encodes the enzyme sphingomyelinase. Deficiencies in this enzyme lead to the accumulation of sphingomyelin in various tissues, resulting in Niemann-Pick disease. Detecting these mutations can help in understanding the genetic basis of the disease.
Who Should Consider This Test?
Individuals with a family history of Niemann-Pick disease or those displaying symptoms such as:
- Enlarged liver or spleen
- Neurological issues
- Developmental delays
- Recurrent respiratory infections
should consider undergoing this test. Genetic counseling is recommended prior to testing to discuss the implications of results.
Benefits of Taking the Test
- Early diagnosis of Niemann-Pick disease types A and B.
- Informed decision-making for family planning.
- Personalized management and treatment strategies.
- Access to support resources for affected individuals and families.
Understanding Your Results
Results from the SMPD1 Gene Niemann-Pick Disease Type AB NGS Genetic DNA Test will be interpreted by our qualified genetic specialists. A positive result indicates the presence of mutations associated with Niemann-Pick disease, while a negative result suggests no known mutations. It’s important to discuss results with a healthcare provider for appropriate follow-up.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SMPD1 Gene Niemann-Pick Disease Type AB NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
This test requires a sample of blood or extracted DNA, or one drop of blood on an FTA card. The turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Before undergoing the SMPD1 Gene Niemann-Pick Disease Type AB NGS Genetic DNA Test, a clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by Niemann-Pick disease type A/B.
Branches and Home Sample Collection
We have branches across all major cities in Kenya, providing convenient access to our services. Additionally, we offer home sample collection services for your convenience.
Book Your Test Today!
Don’t wait! Understanding your genetic health is crucial. Book the SMPD1 Gene Niemann-Pick Disease Type AB NGS Genetic DNA Test today by calling or WhatsApp us at +254711564616.
