NDP Gene Norrie disease NGS Genetic Test
Short Name: NDP Norrie Disease NGS Genetic Test
Also known as: Norrie disease NGS genetic test, NDP gene mutation testing, NDP Norrie disease sequencing
NDP Gene Norrie disease 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 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
To detect pathogenic variants in the NDP gene by Next Generation Sequencing and to support diagnosis, prognosis, and reproductive counselling in families affected by Norrie disease.
- Test Code
- 4434
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. The treating physician or genetic counsellor must complete a genetic counselling session to draw a pedigree chart of family members affected with NDP gene Norrie disease before testing.
Method: Blood draw or dried blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect blood in an EDTA vacutainer, take one drop of blood on an FTA card, or accept an extracted DNA sample. The sample is labelled and dispatched to the laboratory.
Report Delivery
No post-test restrictions are required. The sample is transported to the laboratory and reports are generally issued within 3 to 4 weeks.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the NDP gene by Next Generation Sequencing and to support diagnosis, prognosis, and reproductive counselling in families affected by Norrie disease.
How to Prepare
- No fasting required
- EDTA blood sample may be collected by venepuncture
- FTA card requires one drop of blood from a finger prick or heel prick
- Extracted DNA should be sent in a sterile labelled microcentrifuge tube
- Provide clinical history and pedigree chart along with the sample
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"In at-risk families, genetic confirmation of an NDP gene variant assists reproductive planning and early surveillance for eye, hearing and neurodevelopmental issues."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient quantity of extracted DNA
- Sample without unique identification
- Incomplete requisition form or missing clinical history
Understanding Your Results
Pathogenic variant detected
Supports a clinical diagnosis of Norrie disease and enables focused management and family testing.
Likely pathogenic variant detected
Likely disease-causing; clinical correlation and family segregation studies may be advised.
Variant of uncertain significance (VUS)
Insufficient evidence to classify; further genetic testing of family members may help determine significance.
No pathogenic variant detected
Reduces the likelihood of NDP-related Norrie disease but does not exclude other genetic or acquired causes.
If you notice your child has difficulty following objects, poor eye contact, a white pupil in flash photographs, reduced hearing, or delayed milestones, consult a paediatrician or genetic specialist promptly.
Limitations
- ⚠NGS may not detect large deletions or duplications involving the NDP gene; additional techniques such as MLPA may be required
- ⚠This test is specific to the NDP gene and does not exclude mutations in other genes causing similar retinal disorders
- ⚠Variants of uncertain significance may require family segregation testing and clinical correlation
- ⚠A negative result does not completely rule out Norrie disease if clinical suspicion remains high
Risks & Considerations
- ●Minimal discomfort during blood draw
- ●Small chance of bruising or bleeding at the puncture site
- ●Very low risk of infection at the collection site
Interfering Factors
- ●Low DNA quality or quantity due to improper storage or collection
- ●Recent blood transfusion or bone marrow transplantation can affect the source of DNA
- ●Variants in non-coding regulatory regions not covered by routine NGS
- ●Incomplete clinical information or incorrect sample labelling
Compare With Similar Tests
| Test | NDP Gene Norrie disease NGS Genetic Test | ||
|---|---|---|---|
| Comparison | NDP Gene Norrie disease NGS Genetic Test |
Frequently Asked Questions
What is the NDP Gene Norrie disease NGS Genetic Test?
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What sample is needed?
Is fasting required?
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Is genetic counselling necessary?
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