LRIG2 Gene Urofacial syndrome NGS Genetic Test
Short Name: LRIG2 NGS Test
Also known as: Urofacial syndrome genetic test, LRIG2 mutation analysis
LRIG2 Gene Urofacial syndrome 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical suspicion of Urofacial syndrome by identifying pathogenic mutations in the LRIG2 gene. It aids in establishing a definitive diagnosis, enabling early intervention, genetic counseling, and informed family planning. It also helps differentiate UFS from other conditions with overlapping symptoms.
- Test Code
- 5971
- CPT Code
- 81407
- ICD Code
- Q79.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A small blood sample will be drawn from a vein or a fingerstick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical suspicion of Urofacial syndrome by identifying pathogenic mutations in the LRIG2 gene. It aids in establishing a definitive diagnosis, enabling early intervention, genetic counseling, and informed family planning. It also helps differentiate UFS from other conditions with overlapping symptoms.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient's name and date of birth.
- For FTA card, allow the blood spot to dry completely before packaging.
- Transport the sample to the lab at ambient temperature.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic confirmation of Urofacial syndrome is crucial for timely intervention and family counseling. This NGS test provides a definitive diagnosis, enabling personalized management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive for pathogenic variant
Confirms the diagnosis of Urofacial syndrome. Genetic counseling is recommended for the family.
Negative for pathogenic variant
No mutation detected in LRIG2 gene. Clinical diagnosis should be re-evaluated; other genes may be involved.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help clarify.
Consult a geneticist or pediatrician if the test result is positive or if you have concerns about Urofacial syndrome symptoms. Early consultation can help in management and family planning.
Limitations
- ⚠This test detects mutations only in the LRIG2 gene; other genes may also cause Urofacial syndrome.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess the functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Fainting or dizziness during blood collection
- ●Emotional distress from receiving genetic results
Interfering Factors
- ●Poor sample quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplantation (may affect results)
Compare With Similar Tests
| Test | LRIG2 Gene Urofacial syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | LRIG2 Targeted Mutation Analysis | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | LRIG2 Gene Urofacial syndrome NGS Genetic Test |
Frequently Asked Questions
What is Urofacial syndrome?
How is the LRIG2 gene test performed?
What is the cost of the LRIG2 gene test in India?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What sample types are accepted?
Will the test detect all genetic causes of Urofacial syndrome?
Is genetic counseling included?
Can I book the test online?
What does a positive result mean?
Are there any risks associated with the test?
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₹20,000Reference 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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✓ 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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