MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic Test
Short Name: MMP9 MMA2 NGS Test
Also known as: MMA2 Genetic Test, MMP9 Gene Mutation Test, Metaphyseal Anadysplasia Type 2 NGS Panel
MMP9 Gene Metaphyseal anadysplasia type 2 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 delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Metaphyseal anadysplasia type 2 by identifying pathogenic mutations in the MMP9 gene. It helps in differentiating MMA2 from other skeletal dysplasias, guiding treatment decisions, and providing information for reproductive planning. Genetic testing also enables family screening and prenatal diagnosis in at-risk pregnancies.
- Test Code
- 5846
- CPT Code
- 81479
- 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 delivered 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 to draw a pedigree chart and discuss the implications of testing.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are typically delivered 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 confirm a clinical diagnosis of Metaphyseal anadysplasia type 2 by identifying pathogenic mutations in the MMP9 gene. It helps in differentiating MMA2 from other skeletal dysplasias, guiding treatment decisions, and providing information for reproductive planning. Genetic testing also enables family screening and prenatal diagnosis in at-risk pregnancies.
How to Prepare
- Ensure the patient's identity is verified
- Use sterile EDTA tube for blood collection
- If using FTA card, label with patient ID and date
- Store sample at room temperature until shipment
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for MMA2 is crucial for accurate diagnosis and management. Early detection can help in planning orthopedic interventions and monitoring for complications like fractures and scoliosis."
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 transit without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of MMA2. Genetic counseling recommended for family planning.
Negative (No pathogenic variant)
Does not rule out MMA2 if clinical suspicion is high. Consider other genetic causes.
Variant of Uncertain Significance (VUS)
Further testing of family members may help classify the variant.
Consult a geneticist or pediatrician if the child shows signs of short stature, bowed legs, or skeletal abnormalities. Also, if there is a family history of MMA2, genetic counseling is advised before testing.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not exclude all genetic causes of skeletal dysplasia
- ⚠Test is not intended for prenatal diagnosis without prior counseling
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
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaicism (low-level variant may be missed)
Compare With Similar Tests
| Test | MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic Test | Skeletal Dysplasia Panel | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic Test | This panel tests multiple genes associated with skeletal dysplasias, while the MMP9 test is specific to MMA2. The panel may be more comprehensive but costlier. | WES analyzes all coding regions of the genome, providing broader coverage but at a higher cost and longer turnaround time. |
Frequently Asked Questions
What is the cost of the MMP9 Gene MMA2 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?
Will I receive raw data files?
Is home sample collection available?
What does a positive result mean?
Can this test be done for prenatal diagnosis?
Are there any risks associated with the test?
Is genetic counseling included?
What is the difference between this test and a skeletal dysplasia panel?
How do I book this test?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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