LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test
Introduction
The LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test is an essential diagnostic tool for identifying mutations in the LAMA1 gene, which are associated with Poretti-Boltshauser syndrome. This genetic condition falls under the category of dysmorphology and can lead to various developmental issues. Early detection through this test can significantly impact patient management and family planning.
What the Test Measures
This test employs Next Generation Sequencing (NGS) technology to detect specific mutations in the LAMA1 gene. It provides comprehensive insights into the genetic basis of Poretti-Boltshauser syndrome, allowing for accurate diagnosis and tailored treatment options.
Who Should Consider This Test
Individuals exhibiting symptoms such as developmental delays, abnormal brain structure, or other dysmorphic features should consider this test. Additionally, those with a family history of Poretti-Boltshauser syndrome or related genetic conditions are encouraged to seek testing.
Benefits of Taking the Test
- Accurate diagnosis of Poretti-Boltshauser syndrome.
- Informed decision-making regarding management and treatment.
- Guidance for family planning and genetic counseling.
- Peace of mind for affected individuals and their families.
Understanding Your Results
Results will typically be available within 3 to 4 weeks. A genetic counselor will help interpret the findings, providing clarity on the implications of the results and discussing potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Pre-Test Instructions
The sample can be collected from blood or extracted DNA, or even a single drop of blood on an FTA card. Prior to testing, a clinical history of the patient is required, along with a genetic counseling session to create a pedigree chart of family members affected by the LAMA1 gene.
Book Your Test Today
We have branches across all major cities in Kenya and offer home sample collection services. Don’t wait to get the answers you need. Book the LAMA1 Gene Poretti-Boltshauser Syndrome NGS Genetic DNA Test now! Call or WhatsApp us at +254711564616.
