MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test
Introduction to the Test
The MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test is a specialized genetic test that plays a pivotal role in diagnosing metaphyseal anadysplasia, a condition characterized by abnormal bone growth and development. This test analyzes the MMP13 gene using Next-Generation Sequencing (NGS) technology, offering detailed insights into the genetic factors contributing to dysmorphology.
What the Test Measures
This test specifically detects mutations or abnormalities in the MMP13 gene, which is essential for normal bone growth and remodeling. By identifying these genetic variations, healthcare providers can better understand the underlying causes of skeletal dysmorphology in affected individuals.
Who Should Consider This Test?
This test is particularly relevant for individuals displaying symptoms such as:
- Bone deformities
- Short stature
- Joint abnormalities
- Family history of dysmorphology
If you or your child exhibits these symptoms or has a family history of related conditions, discussing the MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test with a healthcare provider is recommended.
Benefits of Taking the Test
Undergoing the MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic conditions impacting bone health.
- Informed treatment and management options based on genetic findings.
- Enhanced understanding of the risk of recurrence in families.
- Guidance for family planning and genetic counseling.
Understanding Your Results
Results from the MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test will be provided in a comprehensive report. It is crucial to discuss these results with a healthcare professional who can explain their implications and guide further action, if necessary.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
Pre-Test Instructions
Before undergoing the test, it is essential to provide a clinical history and attend a genetic counseling session to create a pedigree chart of family members affected by the MMP13 gene. This information will aid in the accurate interpretation of the test results.
Sample Type
The required sample for the test can be:
- Blood
- Extracted DNA
- One drop of blood on an FTA card
Turnaround Time
The results of the MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test are typically available within 3 to 4 weeks.
