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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 VDDR1 NGS Test

Also known as: Vitamin D-dependent rickets type 1, VDDR1, CYP27B1 gene rickets

CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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.

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 3, 2026

Overview

To identify mutations in the CYP27B1 gene for accurate diagnosis of vitamin D-dependent rickets type 1, enabling targeted treatment and genetic counseling.

Test Code
2472
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 (Next Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult with a geneticist or endocrinologist, provide detailed clinical and family history.
2
During the Test:Sample collection via blood draw or alternative methods as specified.
3
After the Test:Review results with healthcare provider for diagnosis and management planning.

About This Test

Who Should Get This Test

To identify mutations in the CYP27B1 gene for accurate diagnosis of vitamin D-dependent rickets type 1, enabling targeted treatment and genetic counseling.

How to Prepare

  • No fasting required
  • Ensure proper sample labeling
  • Store sample at ambient temperature if not processed immediately

Doctor's Notes

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

"Early genetic testing for CYP27B1 mutations is crucial for confirming diagnosis and guiding personalized treatment of vitamin D-dependent rickets type 1, preventing long-term bone complications."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or as per sample type
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at appropriate storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CYP27B1 gene, aiding in the diagnosis of vitamin D-dependent rickets type 1.
📊

Positive

Pathogenic variant(s) detected in CYP27B1 gene, consistent with VDDR1. Clinical correlation and genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Consider other causes of rickets if symptoms persist.

📊

Variant of Uncertain Significance

Genetic variant identified but clinical significance unknown. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If genetic test results are positive, or if symptoms like bone deformities, growth delays, or muscle weakness persist despite treatment.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

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

Compare With Similar Tests

TestCYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic TestVitamin D Level TestCalcium and Phosphorus TestsX-ray for Bone AbnormalitiesOther Genetic Panels for Rickets
ComparisonCYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic TestMeasures vitamin D levels but does not identify genetic causes.Assesses mineral levels but not specific genetic mutations.Visualizes bone changes but cannot confirm genetic etiology.May include multiple genes, but CYP27B1-specific test offers targeted analysis.

Frequently Asked Questions

What is the CYP27B1 Gene Rickets NGS Genetic Test?
It is a Next-Generation Sequencing test to identify mutations in the CYP27B1 gene, causing vitamin D-dependent rickets type 1.
Who should consider this test?
Children with symptoms like bowed legs, delayed growth, or muscle weakness, and those with a family history of rickets.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to detect genetic variants in the CYP27B1 gene.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What do positive results mean?
Positive results indicate pathogenic mutations in CYP27B1, confirming diagnosis of vitamin D-dependent rickets type 1.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before and after testing to discuss implications.
What are the risks of the test?
Risks are minimal, such as minor bruising from blood draw. Emotional support is available for result interpretation.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be correlated with clinical findings.
What should I do after receiving results?
Consult a healthcare provider or geneticist for diagnosis confirmation and management planning.
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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