CR1 Gene CR1 deficiency NGS Genetic Test
Short Name: CR1 Gene NGS Test
Also known as: CR1 Deficiency Genetic Test, Complement Receptor 1 Gene Test, CR1 NGS Panel, CR1 Mutation Analysis
CR1 Gene CR1 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the CR1 gene that cause complement receptor 1 deficiency. Accurate molecular diagnosis enables confirmation of clinical suspicion, assessment of carrier status, genetic counselling for family members, informed reproductive planning, and initiation of appropriate surveillance and prophylactic measures to reduce the burden of recurrent infections and immune-mediated complications.
- Test Code
- 1955
- CPT Code
- 81479
- ICD Code
- D84.9
- 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), Sanger Confirmation
Sample Collection
No special preparation such as fasting is required. Inform the laboratory of any recent blood transfusions (within 4 weeks) or ongoing immunosuppressive therapy. Bring clinical history documents and family pedigree information if available.
Method: Venipuncture / Heel prick (neonates)
Laboratory Analysis
A peripheral venous blood sample (3-5 mL) will be drawn by a trained phlebotomist into an EDTA lavender-top tube. For neonates, a heel-prick blood sample on an FTA card may be collected. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply pressure to the puncture site for 3-5 minutes. Mild bruising may occur and typically resolves within a few days. The sample will be transported under controlled conditions to the laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the CR1 gene that cause complement receptor 1 deficiency. Accurate molecular diagnosis enables confirmation of clinical suspicion, assessment of carrier status, genetic counselling for family members, informed reproductive planning, and initiation of appropriate surveillance and prophylactic measures to reduce the burden of recurrent infections and immune-mediated complications.
How to Prepare
- Sample: 3-5 mL peripheral venous blood in EDTA tube or one drop on FTA card
- Transport at ambient room temperature (15-30°C)
- Do not freeze the blood sample
- Label the sample clearly with patient name, date of birth, and sample date
- Include completed test requisition form and clinical history
- Ship to laboratory within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CR1 gene deficiency is a rare inherited complement disorder that can predispose patients to recurrent infections and immune dysregulation. Early genetic diagnosis through NGS allows timely clinical management, genetic counselling for family planning, and informed surveillance strategies for associated complications such as autoimmune disease and susceptibility to encapsulated bacterial infections."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed, clotted, or visibly contaminated samples
- Samples collected in incorrect anticoagulant (non-EDTA tube)
- Unlabelled or mislabelled samples
- Samples received after 7 days of collection at room temperature
- Insufficient sample volume (<1 mL blood)
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of CR1 deficiency. Genetic counselling is strongly recommended. Cascade testing of at-risk family members should be considered.
Likely pathogenic variant detected
Strong evidence supports causality. Clinical correlation and family segregation studies are recommended. Genetic counselling is advised.
Variant of uncertain significance (VUS)
Insufficient evidence to classify variant as pathogenic or benign. Clinical follow-up and periodic reanalysis as new data emerge are recommended.
Likely benign variant detected
Variant is unlikely to be causative. No specific clinical action required for this variant. Clinical evaluation for other causes may be warranted.
No pathogenic variant detected
No disease-causing variant identified in the CR1 gene by this method. CR1 deficiency due to variants outside the tested regions or other genetic/acquired causes cannot be excluded. Clinical correlation is essential.
Consult a clinical geneticist or immunologist if the test reveals a pathogenic or likely pathogenic variant, if recurrent infections or autoimmune symptoms persist despite a negative result, or if you require genetic counselling regarding family planning, carrier screening for relatives, or prenatal testing options.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants outside targeted regions
- ⚠Variants of uncertain significance (VUS) may be identified and require further clinical correlation
- ⚠Results should always be interpreted in the context of clinical presentation and family history
- ⚠The test does not assess expression levels or functional activity of the CR1 protein
- ⚠Mosaicism below the detection threshold of NGS may not be identified
Risks & Considerations
- ●Mild pain or bruising at the venipuncture site
- ●Very rare risk of infection at the puncture site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential identification of variants of uncertain significance requiring further evaluation
Interfering Factors
- ●Degraded or insufficient DNA quality from improperly stored samples
- ●Contamination of blood sample during collection or transport
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Haemolysed samples may reduce DNA yield and sequencing quality
Compare With Similar Tests
| Test | CR1 Gene CR1 deficiency NGS Genetic Test | Complement System Functional Panel | Sanger Sequencing of CR1 Gene | CR1 Expression by Flow Cytometry | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | CR1 Gene CR1 deficiency NGS Genetic Test |
Frequently Asked Questions
What is CR1 gene deficiency?
What are the symptoms of CR1 gene deficiency?
How is CR1 gene deficiency diagnosed?
What sample is required for the CR1 Gene NGS Genetic Test?
How much does the CR1 Gene CR1 Deficiency NGS Genetic Test cost in India?
How long does it take to get the results?
Is home sample collection available for this test?
What does a negative test result mean?
Is CR1 gene deficiency hereditary?
Can this test be done for prenatal diagnosis?
Do I need a doctor's prescription for this test?
What is the difference between NGS and Sanger sequencing for CR1 gene testing?
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