Skip to main content
DNA Labs India

ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic Test

Short Name: ENPP1 Gene Hypophosphatemic Rickets Test

Also known as: Autosomal Recessive Hypophosphatemic Rickets Type 2, ENPP1-related Rickets

ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 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 to 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

To identify pathogenic mutations in the ENPP1 gene for accurate diagnosis of hypophosphatemic rickets, autosomal recessive type 2, guiding clinical management and genetic counseling.

Test Code
4974
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 Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Results are reviewed by geneticists.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:Blood sample is collected and sent for NGS analysis in the laboratory.
3
After the Test:Results are available in 3-4 weeks and can be accessed online or via email/WhatsApp.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the ENPP1 gene for accurate diagnosis of hypophosphatemic rickets, autosomal recessive type 2, guiding clinical management and genetic counseling.

How to Prepare

  • Ensure patient clinical history is documented
  • Genetic counseling session recommended
  • Use sterile collection techniques

Doctor's Notes

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

"Early genetic testing for ENPP1 mutations is crucial for managing hypophosphatemic rickets, guiding treatment, and providing genetic counseling to families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood: Stable for 7 days at 2-8°C
Extracted DNA: Stable for 1 year at -20°C
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ENPP1 gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of ENPP1-related hypophosphatemic rickets. Genetic counseling recommended.

📊

No pathogenic variant detected

Does not rule out other causes. Clinical correlation and additional tests may be needed.

📊

Variant of uncertain significance

Further family studies and functional analysis may be required.

⚠️ When to Consult a Doctor:

If symptoms of hypophosphatemic rickets are present, or for genetic counseling after a positive test result.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is ENPP1 Gene Hypophosphatemic Rickets?
It is a rare genetic disorder caused by mutations in the ENPP1 gene, leading to low phosphate levels and bone/dental problems.
What are the common symptoms?
Symptoms include bowed legs, short stature, delayed growth, weak bones, dental issues, and muscle weakness.
How is this condition diagnosed?
Diagnosis involves clinical exams, blood tests, imaging, and genetic testing like the ENPP1 NGS test.
What is the cost of the ENPP1 gene test?
The test costs INR 20,000 at DNA Labs India, with possible discounts for online bookings.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms mutations in the ENPP1 gene, indicating hypophosphatemic rickets. Genetic counseling is recommended.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent.
What are the treatment options for this condition?
Treatment may include phosphate supplements, vitamin D analogs, and orthopedic interventions, guided by genetic diagnosis.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs India offers affordable pricing.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting ENPP1 gene mutations, but results should be interpreted clinically.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.