MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test
Short Name: MMP13 NGS Test
Also known as: MMA1 Genetic Test, MMP13 Gene Mutation Analysis, Metaphyseal Anadysplasia Type 1 NGS Panel
MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the MMP13 gene that cause Metaphyseal Anadysplasia Type 1 (MMA1). It is indicated for individuals with clinical features suggestive of MMA1, such as short stature, bowed legs, metaphyseal irregularities on X-ray, and a family history of the condition. Genetic confirmation helps in establishing a precise diagnosis, enabling early intervention and genetic counseling for affected families.
- Test Code
- 5844
- CPT Code
- 81407
- ICD Code
- Q78.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and draw a pedigree chart.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the MMP13 gene that cause Metaphyseal Anadysplasia Type 1 (MMA1). It is indicated for individuals with clinical features suggestive of MMA1, such as short stature, bowed legs, metaphyseal irregularities on X-ray, and a family history of the condition. Genetic confirmation helps in establishing a precise diagnosis, enabling early intervention and genetic counseling for affected families.
How to Prepare
- For blood sample: Use EDTA tube, mix gently, and label properly.
- For FTA card: Apply one drop of blood onto the card, air dry, and store in a protective pouch.
- Ensure sample is sent to the lab within 24-48 hours if not processed immediately.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic confirmation of MMA1 is crucial for timely orthopedic and developmental interventions. This NGS test provides a definitive diagnosis, enabling personalized management plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of MMA1. Genetic counseling and family screening recommended.
Negative (No pathogenic variant detected)
No mutation found in MMP13 gene. Consider other genetic causes or clinical re-evaluation.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unclear. Further testing or family studies may be needed.
Consult a pediatrician or clinical geneticist if your child shows symptoms such as short stature, bowed legs, joint pain, or abnormal spine curvature. Early referral for genetic testing can help in timely diagnosis and management.
Limitations
- ⚠This test detects mutations only in the MMP13 gene; other genes may cause similar phenotypes.
- ⚠Variant of uncertain significance (VUS) may be reported; additional testing may be needed.
- ⚠NGS may not detect large deletions/duplications; additional methods may be required.
- ⚠Genetic counseling is recommended to interpret results in the context of family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance may require further analysis
Compare With Similar Tests
| Test | MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test | Skeletal Dysplasia Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|
| Comparison | MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the MMP13 Gene Metaphyseal Anadysplasia Type 1 NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What is Metaphyseal Anadysplasia Type 1?
What are the common symptoms of MMA1?
How is MMA1 diagnosed?
Is genetic counseling included in the test?
Can this test be done for prenatal diagnosis?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
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₹20,000Reference Laboratory Services
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