COLUMN1 Gene Platyspondylic Skeletal Dysplasia Torrance Type NGS Genetic DNA Test
Introduction to the Test
The COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the COL2A1 gene, which is crucial for the development of cartilage and bone. This test is particularly important for individuals suspected of having skeletal dysplasia, a condition characterized by abnormal bone growth and development. Early detection can lead to better management and treatment options for affected individuals.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to accurately detect mutations in the COL2A1 gene. These mutations can lead to a variety of skeletal disorders, including platyspondylic skeletal dysplasia, which is associated with short stature and other physical abnormalities.
Who Should Consider This Test
Individuals who exhibit symptoms of skeletal dysplasia, such as disproportionate short stature, joint problems, or a family history of similar conditions, should consider undergoing this test. Additionally, those with clinical indications of dysmorphology may benefit from genetic testing to confirm a diagnosis.
Benefits of Taking the Test
- Accurate diagnosis of skeletal dysplasia.
- Informed decision-making regarding treatment and management options.
- Understanding of potential genetic risks for family members.
- Access to specialized care and support services.
Understanding Your Results
Once the test is completed, results will be available within 3 to 4 weeks. A genetic counselor will help interpret the results and discuss any implications for your health and that of your family members. It is important to understand that not all mutations may have clear clinical significance, and further testing or monitoring may be recommended.
Test Pricing
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40000 |
| Regular Price | 56000 |
Convenience Across Kenya
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu, ensuring that you can access our services easily. Additionally, we offer a home sample collection service for your convenience.
Book Your Test Today!
Don’t wait any longer to get the answers you need. Book the COL2A1 Gene Platyspondylic Skeletal Dysplasia Torrance Type NGS Genetic DNA Test today! For more information, call or WhatsApp us at +254711564616.
