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CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test

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CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test

Short Name: CYP2R1 Gene Rickets Test

Also known as: Vitamin D 25-hydroxylation-deficient type 1B rickets, CYP2R1-related rickets

CYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the CYP2R1 gene that cause vitamin D 25-hydroxylation-deficient type 1B rickets, enabling accurate diagnosis, genetic counseling, and personalized treatment planning.

Test Code
2237
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 of the patient and undergo genetic counseling to draw a pedigree chart of family members affected with rickets.

Method: Venipuncture for blood collection

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture, or one drop of blood on FTA card, or extracted DNA is used.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required.
2
During the Test:Sample collection as per instructions.
3
After the Test:Results available in 3-4 weeks. Follow-up with healthcare provider recommended.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CYP2R1 gene that cause vitamin D 25-hydroxylation-deficient type 1B rickets, enabling accurate diagnosis, genetic counseling, and personalized treatment planning.

How to Prepare

  • Fast for 8-12 hours if specified, but not required for this test.
  • Wear loose clothing for easy access to arm.
  • Inform the collector of any bleeding disorders or medications.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This genetic test is essential for identifying specific mutations in the CYP2R1 gene, which can guide targeted treatment and management of rickets, especially in cases unresponsive to vitamin D supplementation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per sample type
ContainerEDTA tube for blood, or FTA card for one drop blood
Collection MethodVenipuncture for blood collection

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

The results indicate whether pathogenic mutations in the CYP2R1 gene are detected.
📊

Pathogenic variant detected

Confirms diagnosis of CYP2R1 gene rickets. Genetic counseling and targeted treatment recommended.

📊

No pathogenic variant detected

CYP2R1 gene rickets unlikely. Consider other causes of rickets.

⚠️ When to Consult a Doctor:

If you or your child experience symptoms of rickets, such as bone pain or deformities, or if genetic testing results are positive, consult a geneticist or endocrinologist immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Turnaround time of 3-4 weeks
  • ⚠Cost may not be covered by insurance

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Fainting in rare cases
  • ●No significant long-term risks

Interfering Factors

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

Compare With Similar Tests

TestCYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic TestVitamin D Blood TestX-raySanger Sequencing
ComparisonCYP2R1 Gene Rickets, vitamin D 25-hydroxylation-deficient, type 1B NGS Genetic Test

Frequently Asked Questions

What is CYP2R1 gene rickets?
CYP2R1 gene rickets is a rare genetic disorder caused by mutations in the CYP2R1 gene, leading to impaired vitamin D metabolism and resulting in weak bones.
How is CYP2R1 gene rickets diagnosed?
Diagnosis involves blood tests for vitamin D levels, X-rays, and genetic testing such as NGS to identify mutations in the CYP2R1 gene.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is a advanced genetic testing method that can detect mutations across multiple genes, including CYP2R1, with high accuracy.
What is the cost of the CYP2R1 gene rickets test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of CYP2R1 gene rickets?
Symptoms include bowed legs, knee pain, muscle weakness, delayed growth, abnormal spine curvature, and in severe cases, seizures or breathing difficulties.
Can this test be done on children?
Yes, the test can be performed on individuals of all ages, including children, as it is a genetic disorder that often presents in childhood.
What should I do before the test?
Before the test, provide the patient's clinical history and undergo a genetic counseling session to draw a family pedigree chart.
How is the sample collected?
The sample is collected via venipuncture for blood, one drop of blood on FTA card, or using extracted DNA.
What do the results mean?
Results indicate whether pathogenic mutations in the CYP2R1 gene are detected, confirming diagnosis and guiding treatment.
Is genetic counseling provided?
Yes, genetic counseling is included as part of the test to help interpret results and plan 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

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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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✓ 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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