EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test
Short Name: EBP Gene CDPX2 NGS Test
Also known as: X-linked dominant chondrodysplasia punctata, CDPX2, EBP-related skeletal dysplasia
EBP Gene Chondrodysplasia punctata, X-linked dominant 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 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 EBP gene that cause X-linked dominant chondrodysplasia punctata, enabling accurate diagnosis, carrier testing, and informed clinical management.
- Test Code
- 2374
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Ensure patient identification and consent.
Method: Venipuncture or finger-prick
Laboratory Analysis
Collect blood sample via venipuncture or use FTA card for one drop of blood. Follow aseptic techniques.
Report Delivery
Label sample correctly and store at ambient temperature. Transport to lab promptly.
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 EBP gene that cause X-linked dominant chondrodysplasia punctata, enabling accurate diagnosis, carrier testing, and informed clinical management.
How to Prepare
- Verify patient identity and test requisition
- Use sterile equipment for blood draw
- Apply pressure to puncture site after collection
- Ensure sample is sealed and labeled with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for EBP gene mutations is crucial for confirming diagnosis and guiding family counseling in suspected cases of X-linked dominant chondrodysplasia punctata. Early diagnosis can aid in managing symptoms and planning care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed sample
- Incorrect labeling or missing documentation
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of EBP gene chondrodysplasia punctata. Genetic counseling and management recommended.
Negative for known mutations
EBP gene mutation not detected. Clinical evaluation may consider other causes or repeat testing if suspicion remains.
Variant of uncertain significance
Further testing or family studies may be needed. Consult a geneticist for guidance.
Consult a geneticist or specialist if you have a family history of skeletal disorders, exhibit symptoms like short stature or cataracts, or receive abnormal test results for proper diagnosis and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require clinical correlation and genetic counseling
- ⚠Limited to known EBP gene variants in databases
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Rare risk of infection
- ●Emotional impact of genetic results, requiring counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample handling or storage
Compare With Similar Tests
| Test | EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test | Skeletal dysplasia panel | Whole exome sequencing | Chromosome analysis |
|---|---|---|---|---|
| Comparison | EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test |
Frequently Asked Questions
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₹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.
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