IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic Test
Short Name: IMPAD1 Chondrodysplasia NGS Test
Also known as: GPAPP Type Chondrodysplasia, IMPAD1-Related Chondrodysplasia
IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP 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 diagnose Chondrodysplasia with joint dislocations, GPAPP type by identifying mutations in the IMPAD1 gene using Next-Generation Sequencing (NGS). It aids in confirming the disorder, understanding genetic risks, and informing treatment and management strategies.
- Test Code
- 5711
- 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
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or blood drop
Laboratory Analysis
Blood sample collected via venipuncture or a single drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines before transport.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Chondrodysplasia with joint dislocations, GPAPP type by identifying mutations in the IMPAD1 gene using Next-Generation Sequencing (NGS). It aids in confirming the disorder, understanding genetic risks, and informing treatment and management strategies.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples accurately with patient details
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early diagnosis and management of rare genetic disorders affecting bone and joint development, aiding in personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Chondrodysplasia with joint dislocations, GPAPP type. Genetic counseling recommended.
No pathogenic variant detected
Does not rule out the disorder; consider other genetic or clinical evaluations.
Variant of uncertain significance (VUS)
Further research or family studies may be needed for clarification.
Consult a healthcare provider if symptoms such as joint dislocations, short stature, or skeletal abnormalities are present, or if there is a family history of similar conditions.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain or bruising
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in the sample affecting NGS analysis
Compare With Similar Tests
| Test | IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing | Chromosomal Microarray | FISH Analysis |
|---|---|---|---|---|---|
| Comparison | IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type 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.
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.
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