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CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test

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CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test

Short Name: CYP27B1 Rickets Test

Also known as: VDDR Type 1 Genetic Test, CYP27B1 Mutation Analysis

CYP27B1 Gene Rickets, vitamin D dependent, type 1 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 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 identify mutations in the CYP27B1 gene that cause vitamin D-dependent rickets type 1. It helps in confirming diagnosis, guiding treatment, and providing genetic counseling for affected families.

Test Code
2238
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Inform the laboratory about any medications or recent blood transfusions.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein or a drop of blood collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications of the test.
2
During the Test:The test involves sequencing the CYP27B1 gene using NGS technology.
3
After the Test:Results are available in 3-4 weeks. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the CYP27B1 gene that cause vitamin D-dependent rickets type 1. It helps in confirming diagnosis, guiding treatment, and providing genetic counseling for affected families.

How to Prepare

  • Avoid eating or drinking for a few hours if required
  • Wear loose clothing for easy access
  • Bring identification and doctor's prescription

Doctor's Notes

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

"Genetic testing for CYP27B1 mutations is crucial for early diagnosis and management of vitamin D-dependent rickets, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick
Sample Rejection Criteria:
  • Clotted blood sample
  • Insufficient sample volume
  • Contaminated or improperly labeled samples

Understanding Your Results

Genetic test results indicate the presence or absence of mutations in the CYP27B1 gene. Positive results confirm the diagnosis of vitamin D-dependent rickets type 1.
Positive for pathogenic variant: Confirms diagnosis, recommend genetic counseling
Negative: May require further testing or consider other causes
Variant of uncertain significance: Clinical correlation needed
⚠️ When to Consult a Doctor:

If your child shows symptoms such as bowed legs, delayed growth, or bone pain, consult a pediatrician or geneticist immediately.

Limitations

  • ⚠May not detect all mutations due to technical limitations
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other causes of rickets

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic diagnosis

Interfering Factors

  • ●Sample contamination
  • ●Improper sample collection
  • ●Degraded DNA

Compare With Similar Tests

TestCYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic TestVitamin D Level TestCalcium and Phosphate Tests
ComparisonCYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test

Frequently Asked Questions

What is CYP27B1 gene rickets?
CYP27B1 gene rickets, or vitamin D-dependent rickets type 1, is a genetic disorder caused by mutations in the CYP27B1 gene, impairing vitamin D activation and leading to bone development issues.
How is the CYP27B1 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the CYP27B1 gene for mutations from a blood sample or extracted DNA.
What is the cost of the CYP27B1 gene test at DNA Labs India?
The test costs INR 20000, including sample collection and analysis.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider taking this genetic test?
Children with symptoms of rickets, such as bowed legs or delayed growth, and individuals with a family history of the condition.
What are the symptoms of CYP27B1 gene rickets?
Symptoms include bowed legs and arms, delayed growth, bone and joint pain, muscle weakness, soft bones, and dental problems.
Is the genetic test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally painless.
Can adults take this test for CYP27B1 gene rickets?
Yes, the test can be performed on individuals of any age, though it is more common in children.
What happens if the test result is positive?
A positive result confirms the diagnosis, allowing for appropriate treatment, such as vitamin D supplementation, and genetic counseling for families.
Is genetic counseling necessary before or after the test?
Yes, genetic counseling is recommended to understand the implications of the test and guide decision-making.
How accurate is the CYP27B1 gene test?
The test uses advanced NGS technology, providing high accuracy, but results should be interpreted by a healthcare professional.
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.

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