CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test
Introduction to the Test
The CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test is a pivotal diagnostic tool designed to identify mutations in the CANT1 gene, which are responsible for Desbuquois dysplasia, a rare genetic disorder characterized by skeletal malformations. This test employs advanced next-generation sequencing (NGS) technology, ensuring precise and reliable results crucial for effective patient management.
What the Test Measures
This genetic test specifically measures the presence of mutations in the CANT1 gene. By analyzing the DNA extracted from a blood sample or FTA card, the test can detect variations that may lead to the clinical manifestations of Desbuquois dysplasia.
Who Should Consider This Test?
Individuals exhibiting symptoms of dysmorphology, such as abnormal skeletal development, or those with a family history of Desbuquois dysplasia should consider this test. Risk factors include:
- Family history of genetic disorders
- Presence of symptoms indicating skeletal abnormalities
- Clinical suspicion of a genetic syndrome
Benefits of Taking the Test
Taking the CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test offers numerous benefits:
- Accurate diagnosis of Desbuquois dysplasia
- Informed decision-making regarding patient management
- Potential for early intervention and treatment planning
- Understanding genetic risks for family members
Understanding Your Results
Results from the CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test will be provided with guidance to help you understand the implications of the findings. A genetic counseling session is recommended to interpret the results accurately and discuss potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To schedule your CANT1 Gene Desbuquois Dysplasia Type 1 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in taking this important step towards understanding your health.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One Drop Blood on FTA Card
Pre-Test Instructions: A genetic counseling session is required to discuss the clinical history and draw a pedigree chart of affected family members.
