HSPG2 Gene Schwartz-Jampel Syndrome Type 1 NGS Genetic DNA Test
Introduction
The HSPG2 Gene Schwartz-Jampel Syndrome Type 1 NGS Genetic DNA Test is a groundbreaking diagnostic tool that helps identify genetic mutations associated with Schwartz-Jampel Syndrome, a rare neurological disorder. This test employs Next Generation Sequencing (NGS) technology to provide accurate insights into genetic predispositions, aiding in the management and treatment of affected individuals.
What the Test Measures
This genetic test specifically measures mutations in the HSPG2 gene, which is crucial for understanding the underlying causes of Schwartz-Jampel Syndrome. By analyzing the DNA, healthcare providers can determine if a patient carries the genetic markers associated with this condition.
Who Should Consider This Test?
Individuals exhibiting symptoms of Schwartz-Jampel Syndrome, such as muscle stiffness, short stature, and distinctive facial features, should consider this test. Additionally, those with a family history of neurological disorders or genetic predispositions may benefit from early screening.
Benefits of Taking the Test
- Accurate diagnosis of Schwartz-Jampel Syndrome.
- Guidance for treatment options based on genetic findings.
- Informed family planning through genetic counseling.
- Peace of mind for patients and families regarding their health.
Understanding Your Results
Results from the HSPG2 Gene Schwartz-Jampel Syndrome Type 1 NGS Genetic DNA Test will be reviewed by a qualified healthcare professional. They will explain the implications of the findings and discuss potential next steps, including treatment options and further testing if necessary.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| HSPG2 Gene Schwartz-Jampel Syndrome Type 1 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 or extracted DNA, or even one drop of blood on an FTA card. It is recommended that patients undergo a genetic counseling session prior to testing, which includes a clinical history review and drawing a pedigree chart of affected family members.
Book Your Test Today!
We have branches across Kenya, and we also offer a home sample collection service for your convenience. To book the HSPG2 Gene Schwartz-Jampel Syndrome Type 1 NGS Genetic DNA Test, call or WhatsApp us at +254746849631. Don’t wait to get the answers you need for your health!
