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ENPP1 Gene Cole disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ENPP1 Gene Cole disease NGS Genetic Test

Short Name: Cole Disease NGS Test

Also known as: Cole-Carpenter syndrome

ENPP1 Gene Cole disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

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 ENPP1 gene to diagnose Cole disease, a rare genetic disorder affecting bones and skin. It aids in confirming clinical suspicion, guiding treatment, and providing genetic counseling for affected individuals and families.

Test Code
2384
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
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.

Method: Blood draw or saliva sample at testing center or home collection

Step 2

Laboratory Analysis

A small sample of blood or saliva is collected by a healthcare professional, either at a testing center or during home collection.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis. Results are available online after 3-4 weeks.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss the test, implications, and draw a family pedigree chart.
2
During the Test:Sample collection is quick and minimally invasive, typically taking a few minutes.
3
After the Test:Wait for results, which are delivered online in 3-4 weeks. Genetic counseling is provided to explain findings.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ENPP1 gene to diagnose Cole disease, a rare genetic disorder affecting bones and skin. It aids in confirming clinical suspicion, guiding treatment, and providing genetic counseling for affected individuals and families.

How to Prepare

  • Provide a blood sample or extracted DNA
  • For FTA card, one drop of blood is sufficient
  • Ensure sample is labeled correctly
  • Follow any specific instructions from the collection center

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for confirming Cole disease, which can impact bone and skin health. Early diagnosis aids in management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or saliva sample at testing center or home collection

Sample Stability

Room temperatureStable for several days if collected on FTA card
RefrigeratedUp to 7 days for blood samples
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated sample
  • Improper labeling
  • Hemolyzed blood samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ENPP1 gene. A positive result confirms Cole disease diagnosis, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of Cole disease; genetic counseling recommended for family planning and management.

📊

Negative for pathogenic variant

Cole disease unlikely, but consider other diagnoses if symptoms persist; clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed; consult a geneticist for interpretation.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as abnormal bone growth, skin thickening, joint pain, or have a family history of Cole disease. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠May not detect all rare mutations or large deletions
  • ⚠Results should be interpreted in clinical context
  • ⚠Genetic counseling recommended for accurate understanding

Risks & Considerations

  • ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the collection site.
  • ●Emotional impact of genetic testing results; counseling support is available.

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions
  • ●Improper sample storage

Compare With Similar Tests

TestENPP1 Gene Cole disease NGS Genetic TestENPP1 Gene SequencingBone Disorder PanelChromosomal MicroarrayBiochemical Marker Tests
ComparisonENPP1 Gene Cole disease NGS Genetic Test

Frequently Asked Questions

What is Cole disease?
Cole disease, also known as Cole-Carpenter syndrome, is a rare genetic disorder caused by mutations in the ENPP1 gene, affecting bone growth and skin health.
What are the symptoms of Cole disease?
Symptoms include abnormal bone growth, thickened skin, joint pain, delayed growth, short stature, and frequent fractures.
How is Cole disease diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as the ENPP1 Gene Cole Disease NGS Genetic Test.
What does the ENPP1 Gene Cole Disease NGS Genetic Test involve?
It is a next-generation sequencing test that analyzes the ENPP1 gene for mutations using a blood or saliva sample.
What is the cost of the test?
The test costs INR 20,000, which includes genetic counseling and support from experts.
Is home sample collection available?
Yes, free home collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3-4 weeks via online portal, email, or WhatsApp.
What sample types are accepted?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How accurate is the test?
The test uses NGS technology for high accuracy, detecting even small mutations in the ENPP1 gene.
Can the test be used for family planning?
Yes, results can inform genetic counseling for family members and future pregnancies.
What should I do if I have a family history of Cole disease?
Consult a healthcare provider for genetic testing and counseling to assess risk and guide management.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

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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