Understanding Niemann-Pick Disease Type A/B Genetic Testing
When you’re concerned about inherited conditions like Niemann-Pick disease in your family, the uncertainty can be overwhelming. Our SMPD1 gene test provides the answers you need to make informed decisions about your health and your family’s future. This comprehensive genetic analysis helps identify mutations in the SMPD1 gene, which are responsible for Niemann-Pick disease types A and B – rare but serious inherited metabolic disorders.
What This Test Detects
This advanced Next-Generation Sequencing (NGS) test examines the SMPD1 gene for mutations that cause Niemann-Pick disease types A and B. These conditions affect how your body processes lipids, leading to the accumulation of harmful substances in cells. By identifying specific genetic variations, we can provide crucial information about your risk and help guide appropriate medical management.
Who Should Consider This Test
This test is particularly important if you or your family members experience:
- Family history of Niemann-Pick disease
- Unexplained developmental delays in children
- Liver or spleen enlargement without clear cause
- Neurological symptoms that suggest metabolic disorders
- Planning for pregnancy with family history of genetic conditions
Why Early Detection Matters for Your Health
Early genetic testing for Niemann-Pick disease can be life-changing. Understanding your genetic status allows for:
- Proactive health monitoring and management
- Informed family planning decisions
- Early intervention strategies if needed
- Peace of mind through definitive answers
- Connection with appropriate specialist care
Understanding Your Results
We know waiting for genetic results can be anxiety-provoking. Our comprehensive reporting includes:
- Clear, easy-to-understand result explanations
- Professional genetic counselling to discuss findings
- Guidance on next steps based on your results
- Support in understanding what the results mean for you and your family
- Referrals to appropriate specialists if needed
Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| SMPD1 Gene Niemann-Pick Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling Session | Included | |
| Family Pedigree Analysis | Included | |
| Professional Result Interpretation | Included | |
Nationwide Accessibility
We’re committed to making genetic testing accessible across South Africa. Our services are available in:
- Johannesburg and surrounding areas
- Cape Town and Western Cape region
- Durban and KwaZulu-Natal
- Pretoria and Gauteng province
- Major centres nationwide
Take Action for Your Health Today
Don’t let uncertainty about genetic risks control your future. Our compassionate team is here to support you through every step of the testing process. With rapid 3-4 week turnaround times and comprehensive genetic counselling included, you’ll have the information you need to make confident health decisions.
Book your consultation today and take the first step toward understanding your genetic health. Our experienced genetic counsellors are ready to help you navigate this important journey with care and expertise.
