ENPP1 Gene Arterial calcification type 1, generalized, infantile NGS Genetic Test
Short Name: ENPP1 Gene Test
Also known as: Generalized Arterial Calcification of Infancy, GACI, Idiopathic infantile arterial calcification
ENPP1 Gene Arterial calcification type 1, generalized, infantile 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 3-4 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 identify pathogenic mutations in the ENPP1 gene for the accurate diagnosis of arterial calcification type 1, generalized, infantile, enabling early intervention and genetic counseling.
- Test Code
- 2553
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, a single drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per instructions for stability.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the ENPP1 gene for the accurate diagnosis of arterial calcification type 1, generalized, infantile, enabling early intervention and genetic counseling.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Transport samples at ambient room temperature unless specified otherwise
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of Generalized Arterial Calcification of Infancy (GACI), helping to prevent life-threatening complications like heart attacks and strokes in affected infants."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient identification
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of arterial calcification type 1, generalized, infantile. Genetic counseling and management planning recommended.
Negative for pathogenic variant
No causative mutations identified in the ENPP1 gene. Clinical correlation and further testing may be considered.
Variant of uncertain significance (VUS)
Genetic variant detected but clinical significance unknown. Requires follow-up and family studies.
Consult a doctor if the test is positive, if symptoms persist despite negative results, or for genetic counseling regarding family planning and management options.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Requires interpretation by a qualified geneticist
- ⚠Does not rule out other genetic or non-genetic causes of similar symptoms
- ⚠Results may have implications for family members, necessitating genetic counseling
Risks & Considerations
- ●Minimal physical risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results on patient and family
- ●Potential for incidental findings unrelated to the primary condition
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
- ●Hemolyzed blood samples
Frequently Asked Questions
What is the ENPP1 Gene Arterial Calcification Type 1 NGS Genetic Test?
Who should consider taking this test?
What are the common symptoms of this condition?
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Is home sample collection available?
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Can this test be used for prenatal diagnosis?
Is genetic counseling provided with the test?
How accurate is the NGS genetic test?
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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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