HPSE2 Gene Urofacial syndrome type 1 NGS Genetic Test
Short Name: HPSE2 NGS Test
Also known as: Urofacial Syndrome Type 1 Genetic Test, HPSE2 Gene Sequencing, Ochoa Syndrome Genetic Test
HPSE2 Gene Urofacial syndrome type 1 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 delivered in 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Urofacial syndrome type 1 by detecting pathogenic mutations in the HPSE2 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations.
- Test Code
- 5969
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended before testing.
Method: Venipuncture or Finger prick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a finger prick is performed.
Report Delivery
No specific precautions. Resume normal activities.
Timeline: Reports are delivered in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Urofacial syndrome type 1 by detecting pathogenic mutations in the HPSE2 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with known mutations.
How to Prepare
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood on the designated circle
- Label the sample with patient ID and date
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Urofacial syndrome type 1 is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Urofacial syndrome type 1. Genetic counseling recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further family studies may be needed.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; additional testing may be required.
No pathogenic variant detected
Does not rule out UFS1; consider other genetic causes or clinical reassessment.
If you or your child experience symptoms such as urinary tract infections, difficulty urinating, or unusual facial expressions, consult a pediatrician or geneticist for evaluation.
Limitations
- ⚠NGS may not detect large deletions/duplications (requires MLPA if indicated)
- ⚠Variants of uncertain significance may require further family studies
- ⚠Not a substitute for clinical evaluation
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Fainting or dizziness during blood collection (rare)
- ●Psychological impact of genetic results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | HPSE2 Gene Urofacial syndrome type 1 NGS Genetic Test | Whole Exome Sequencing | Targeted HPSE2 Sanger Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | HPSE2 Gene Urofacial syndrome type 1 NGS Genetic Test | WES covers all coding regions, may identify other genes, but is more expensive and time-consuming. | Sanger is useful for known familial mutations, but NGS is preferred for initial diagnosis. | CMA detects copy number changes, not point mutations, so not suitable for UFS1. |
Frequently Asked Questions
What is Urofacial syndrome type 1?
How is Urofacial syndrome type 1 diagnosed?
What is the cost of the HPSE2 gene NGS test in India?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Is home sample collection available?
Can this test be done on children?
What does a positive result mean?
Is genetic counseling included?
Will insurance cover this test?
What are the symptoms of Urofacial syndrome type 1?
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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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