NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test
Short Name: NPR2 Gene Test for Maroteaux Type
Also known as: NPR2 Gene Sequencing Test, Maroteaux Type Acromesomelic Dysplasia Genetic Test, NPR2 Mutation Analysis
NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 detect mutations in the NPR2 gene for the diagnosis of acromesomelic dysplasia, Maroteaux type, enabling accurate clinical management, genetic counseling, and family risk assessment.
- Test Code
- 5641
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next Generation Sequencing)
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with NPR2 gene-related conditions.
Method: Venipuncture for blood samples
Laboratory Analysis
Blood sample collected via venipuncture or use of extracted DNA or one drop of blood on an FTA card.
Report Delivery
Sample is transported to the laboratory under ambient room temperature for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the NPR2 gene for the diagnosis of acromesomelic dysplasia, Maroteaux type, enabling accurate clinical management, genetic counseling, and family risk assessment.
How to Prepare
- Ensure patient clinical history is documented
- Schedule a genetic counseling session prior to testing
- Use sterile collection equipment to avoid contamination
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for confirming diagnosis of Maroteaux type acromesomelic dysplasia, enabling early intervention and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of acromesomelic dysplasia, Maroteaux type; genetic counseling recommended.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed for clarification.
No pathogenic variant detected
Does not rule out other genetic causes; clinical correlation advised.
Consult a healthcare provider if symptoms of acromesomelic dysplasia are present, for family planning if there is a known family history, or after receiving test results for management guidance.
Limitations
- ⚠May not detect all types of NPR2 mutations, such as large deletions or duplications
- ⚠Requires genetic counseling for proper interpretation
- ⚠Results should be correlated with clinical findings and family history
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test | FGFR3 Gene Test for Achondroplasia | Comprehensive Skeletal Dysplasia Panel | SHOX Gene Test for Léri-Weill Dyschondrosteosis | COL2A1 Gene Test for Stickler Syndrome |
|---|---|---|---|---|---|
| Comparison | NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test |
Frequently Asked Questions
What is the NPR2 Gene Acromesomelic Dysplasia, Maroteaux Type NGS Genetic Test?
Who should consider this test?
What is the cost of the test?
How is the test performed?
What sample types are accepted?
Is fasting required before the test?
How long does it take to get results?
What do the results indicate?
Is home sample collection available?
What is included in the test price?
Are there any risks associated with the test?
How can I prepare for the test?
Related Tests
Amino Acids Qualitative Two Dimensional Urine Test
₹1,439Succinylacetone Urine Test
₹5,000RXFP2 Gene Cryptorchidism NGS Genetic Test
₹20,000EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
₹20,000MNX1 Gene Currarino syndrome NGS Genetic Test
₹20,000FGFR1 Gene Craniosynostosis, FGFR1 related 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.