MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Skeletal Disorders
The MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal conditions. This advanced testing methodology utilizes next-generation sequencing technology to identify mutations in the MMP13 gene, which plays a critical role in bone development and maintenance. Metaphyseal anadysplasia type 1 is a rare autosomal recessive disorder characterized by abnormal development of the metaphyseal regions of long bones, leading to distinctive skeletal abnormalities that can significantly impact mobility and quality of life.
What Does This Test Measure?
This comprehensive genetic test specifically targets the MMP13 gene, analyzing its complete coding sequence and adjacent regulatory regions to detect:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the MMP13 gene
- Pathogenic variants associated with metaphyseal anadysplasia type 1
The MMP13 gene encodes matrix metalloproteinase 13, an enzyme essential for collagen degradation and bone remodeling during development. Mutations in this gene disrupt normal bone formation, particularly in the metaphyseal regions where rapid growth occurs.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following clinical features:
- Infants and children with abnormal bone development
- Short stature with disproportionate limb involvement
- Metaphyseal widening and irregularity visible on X-rays
- Delayed motor development and walking difficulties
- Family history of similar skeletal abnormalities
- Consanguineous parents with suspected autosomal recessive inheritance
- Unexplained skeletal dysplasia in pediatric patients
Benefits of MMP13 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirm or rule out metaphyseal anadysplasia type 1 with high precision
- Personalized Treatment Planning: Guide orthopedic interventions and physical therapy approaches
- Genetic Counseling: Provide accurate recurrence risk information for family planning
- Early Intervention: Enable proactive management strategies to optimize bone health
- Differential Diagnosis: Distinguish from other forms of skeletal dysplasia with similar presentations
- Research Contribution: Contribute to ongoing understanding of rare bone disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your MMP13 gene analysis:
- Positive Result: Identification of pathogenic variants confirms diagnosis of metaphyseal anadysplasia type 1
- Negative Result: No detected mutations in MMP13 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists. Genetic counseling is strongly recommended to discuss implications for the patient and family members.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar conditions
- Recent imaging studies (X-rays) showing skeletal abnormalities
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this specialized genetic testing.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about skeletal abnormalities affect your quality of life. Our MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into this rare bone disorder.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
