NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic Test
Short Name: NKX3-2 SMMD NGS Test
Also known as: NKX3-2 Gene Sequencing, SMMD Genetic Test, Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Panel
NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia 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 delivered within 3 to 4 weeks after sample receipt.. 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 confirm a clinical diagnosis of Spondylo-megaepiphyseal-metaphyseal dysplasia by identifying pathogenic mutations in the NKX3-2 gene. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for affected families.
- Test Code
- 5940
- CPT Code
- 81406
- ICD Code
- Q78.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Provide clinical history and pedigree chart. Genetic counseling session is recommended before testing.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No special precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Spondylo-megaepiphyseal-metaphyseal dysplasia by identifying pathogenic mutations in the NKX3-2 gene. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for affected families.
How to Prepare
- Ensure correct patient identification
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood to each circle
- Label the sample with patient name and date of birth
- Store at room temperature until shipment
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for SMMD is crucial for accurate diagnosis and family planning. NGS provides comprehensive analysis of the NKX3-2 gene, enabling early intervention and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit (>7 days) without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SMMD. Autosomal recessive inheritance. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of SMMD. Further confirmation may be needed through family studies.
Variant of uncertain significance (VUS)
Cannot be definitively classified. Additional testing of family members may help determine pathogenicity.
No pathogenic variant detected
Does not rule out SMMD. Consider other genetic causes or clinical re-evaluation.
Consult a geneticist or pediatrician if you or your child exhibit symptoms of SMMD, such as short stature, skeletal abnormalities, or joint problems. Also, if there is a family history of SMMD, genetic counseling is advised before testing.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may require further family studies
- ⚠Negative result does not rule out SMMD if clinical suspicion is high; other genes may be involved
- ⚠Genetic counseling is recommended for result interpretation
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells
Compare With Similar Tests
| Test | NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic Test | Skeletal Dysplasia Panel | Whole Exome Sequencing (WES) | Targeted Sanger Sequencing |
|---|---|---|---|---|
| Comparison | NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic Test |
Frequently Asked Questions
What is the cost of the NKX3-2 gene NGS test in India?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Will I receive raw data files?
What does the test detect?
Is home sample collection available?
Who should consider this test?
What is the inheritance pattern of SMMD?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
How do I book this test?
Related Tests
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
₹20,000EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
₹20,000FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
₹20,000TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
₹20,000ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
₹20,000PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test
₹20,000Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.