ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test
Short Name: ABCC6 PXE NGS Test
Also known as: PXE Genetic Test, ABCC6 Mutation Analysis
ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood 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
To detect mutations in the ABCC6 gene for the diagnosis of Pseudoxanthoma elasticum, enabling early management and genetic counseling.
- Test Code
- 5118
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history of patient and a genetic counseling session to draw a pedigree chart of family members affected with PXE.
Method: Venipuncture
Laboratory Analysis
Standard blood collection via venipuncture.
Report Delivery
Apply pressure to the puncture site to prevent bruising.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the ABCC6 gene for the diagnosis of Pseudoxanthoma elasticum, enabling early management and genetic counseling.
How to Prepare
- Ensure patient is relaxed
- Use sterile equipment
- Label sample correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PXE is crucial for early diagnosis and management. Consult a genetic counselor for personalized advice on inheritance and health risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improper labeling
Understanding Your Results
If symptoms like skin papules, vision changes, or cardiovascular issues are present, or if family history suggests PXE.
Limitations
- ⚠May not detect all genetic variants due to rarity of disorder
- ⚠Requires genetic counseling for interpretation
- ⚠Limited to ABCC6 gene analysis
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
What is the ABCC6 Gene PXE NGS Genetic Test?
Who should take this test?
What are the symptoms of Pseudoxanthoma elasticum?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do the test results mean?
Is genetic counseling necessary?
Can PXE be cured?
What are the risks of the test?
How accurate is the NGS genetic test?
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Reference 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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