CR1 Gene CR1 deficiency NGS Genetic Test
Short Name: CR1 Gene NGS Test
Also known as: Complement Receptor 1 Deficiency Test, CR1 Deficiency Genetic Test, CR1 NGS Genetic Test, Complement Receptor 1 Gene Sequencing, CD35 Gene Test
CR1 Gene CR1 deficiency 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. You will be notified via your preferred communication method (online portal, email, or WhatsApp) once the report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of the CR1 Gene CR1 Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the CR1 gene that cause complement receptor 1 deficiency. This test enables accurate molecular diagnosis of CR1 deficiency, guides clinical management decisions, helps assess disease risk in family members, and supports genetic counseling for affected individuals and their families.
- Test Code
- 5257
- CPT Code
- 81479
- ICD Code
- D84.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. You will be notified via your preferred communication method (online portal, email, or WhatsApp) once the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended before sample collection to discuss the implications of testing, obtain informed consent, and draw a pedigree chart of family members affected with CR1 deficiency or related conditions. No fasting is required. Provide complete clinical history of the patient.
Method: Venipuncture / FTA Card Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube. Alternatively, one drop of blood can be spotted on an FTA card. The collection procedure is similar to a routine blood draw and typically takes less than 10 minutes.
Report Delivery
The sample will be labeled, processed, and transported to the laboratory under appropriate conditions. Results will be available within 3 to 4 weeks. A post-test genetic counseling session is recommended to discuss the findings and their clinical implications.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. You will be notified via your preferred communication method (online portal, email, or WhatsApp) once the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CR1 Gene CR1 Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the CR1 gene that cause complement receptor 1 deficiency. This test enables accurate molecular diagnosis of CR1 deficiency, guides clinical management decisions, helps assess disease risk in family members, and supports genetic counseling for affected individuals and their families.
How to Prepare
- Ensure the patient has signed informed consent for genetic testing
- Complete the clinical history and family pedigree form before sample collection
- Collect 3-5 mL venous blood in an EDTA (lavender top) tube using standard venipuncture technique
- Alternatively, collect one drop of blood on an FTA card and allow it to dry completely
- Label the sample clearly with patient name, date of birth, sample date, and test name
- Store the EDTA blood sample at 2-8°C and transport to the laboratory within 48 hours
- FTA cards should be stored at room temperature in a dry environment
- Avoid hemolysis during blood collection by using appropriate needle gauge and gentle handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"CR1 deficiency is an underrecognized complement disorder that can predispose patients to recurrent infections, autoimmune conditions, and complement-mediated kidney diseases. Next-generation sequencing of the CR1 gene provides comprehensive variant detection, enabling precise molecular diagnosis. I recommend this test for any patient presenting with unexplained complement abnormalities, recurrent infections, or a family history suggestive of complement pathway dysfunction. Early genetic diagnosis allows for targeted clinical management and informed family planning."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (less than 2 mL blood)
- Severely hemolyzed, clotted, or degraded samples
- Improperly labeled or unlabeled samples
- Samples received without completed requisition form or clinical history
- Samples collected in incorrect anticoagulant tubes (e.g., heparin tubes)
- FTA cards with incomplete blood spots or visible contamination
Understanding Your Results
No disease-causing mutations were identified in the CR1 gene. This result does not completely exclude CR1 deficiency, as mutations in regulatory regions or other genes in the complement pathway may be responsible. Clinical correlation is advised.
One or more disease-causing mutations were identified in the CR1 gene. This finding supports a molecular diagnosis of CR1 deficiency. Genetic counseling is recommended to discuss inheritance pattern, recurrence risk, and implications for family members.
A genetic variant was identified whose clinical significance is currently unknown. Further family studies, functional analysis, or follow-up testing may be required. Clinical correlation and periodic re-evaluation of variant classification is recommended.
Two copies of a pathogenic variant were detected, suggesting a more severe clinical phenotype consistent with autosomal recessive CR1 deficiency. Comprehensive clinical evaluation and family screening are strongly recommended.
One copy of a pathogenic variant was detected. The individual may be a carrier or may exhibit variable expressivity depending on the specific variant and other genetic or environmental factors. Family studies are recommended.
Consult a clinical geneticist or immunologist if you or a family member experiences recurrent infections, unexplained autoimmune symptoms, complement-mediated kidney disease, or if a family member has been diagnosed with CR1 deficiency. Genetic counseling is strongly recommended before and after testing to understand the implications of results for you and your family.
Limitations
- ⚠This test may not detect deep intronic variants, regulatory region mutations, or large structural rearrangements outside the targeted region
- ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation
- ⚠Epigenetic modifications affecting CR1 gene expression are not assessed by this test
- ⚠Results must be interpreted in conjunction with clinical findings and family history
- ⚠Mosaicism at low levels may not be reliably detected
Risks & Considerations
- ●Minor pain or discomfort at the blood collection site
- ●Slight bruising or swelling at the puncture site (resolves within a few days)
- ●Very rare risk of infection at the collection site
- ●Fainting or lightheadedness during blood draw (uncommon)
- ●Psychological impact of genetic test results — genetic counseling is recommended
Interfering Factors
- ●Hemolyzed blood samples may reduce DNA quality and affect sequencing results
- ●Recent blood transfusion (within 4 weeks) may introduce donor DNA and compromise accuracy
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage or prolonged transit time
- ●Presence of PCR inhibitors in the sample
Compare With Similar Tests
| Test | CR1 Gene CR1 deficiency NGS Genetic Test | |||||
|---|---|---|---|---|---|---|
| Comparison | CR1 Gene CR1 deficiency NGS Genetic Test |
Frequently Asked Questions
What is the CR1 Gene CR1 Deficiency NGS Genetic Test?
What is CR1 deficiency and what causes it?
What are the common symptoms of CR1 deficiency?
Who should get the CR1 Gene NGS Genetic Test?
What sample is required for the CR1 Gene NGS Genetic Test?
How long does it take to get the results of the CR1 Gene NGS Genetic Test?
What is the cost of the CR1 Gene CR1 Deficiency NGS Genetic Test in India?
Is home sample collection available for this test?
Is genetic counseling required before and after the test?
Can this test detect all mutations in the CR1 gene?
Is the CR1 Gene NGS Genetic Test covered by insurance in India?
What should I do if my test results show a pathogenic variant in the CR1 gene?
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