CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test
Introduction
The CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test is a specialized genetic test that plays a crucial role in diagnosing Desbuquois Dysplasia, a rare genetic disorder characterized by skeletal abnormalities. By utilizing Next Generation Sequencing (NGS) technology, this test can accurately identify mutations in the CANT1 gene, which are responsible for this condition.
What the Test Measures
This test specifically detects mutations in the CANT1 gene, which is essential for proper bone and cartilage development. Identifying these mutations can confirm a diagnosis of Desbuquois Dysplasia and guide treatment options.
Who Should Consider This Test
This test is recommended for:
- Pediatric patients exhibiting symptoms of skeletal dysplasia or other dysmorphological features.
- Individuals with a family history of Desbuquois Dysplasia or related genetic conditions.
- Patients undergoing genetic counseling for hereditary conditions.
Benefits of Taking the Test
- Accurate diagnosis of Desbuquois Dysplasia, allowing for informed medical decisions.
- Guidance for managing symptoms and planning for future medical care.
- Providing families with important information regarding inheritance patterns.
Understanding Your Results
Results from the CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor will help interpret the results, explaining the implications for the patient and their family.
Test Price
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Book Your Test Today
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu. Our team is ready to assist you with the CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test. To book your test or for more information, please call or WhatsApp us at +254711564616.
Pre-Test Instructions
Prior to the test, it is essential to have a clinical history of the patient. A genetic counseling session is recommended to draw a pedigree chart of family members affected by the CANT1 gene mutation.
Specialty and Method
This test falls under the Pediatrics specialty, within the Genetics department, utilizing NGS technology to provide accurate and reliable results for diagnosing dysmorphology-related conditions.
