NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
Short Name: NPC1 Gene NGS Genetic Test
Also known as: NPC1 Gene Sequencing, Niemann-Pick Type C1 Genetic Test, NPC1 NGS Mutation Analysis
NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued in 3 to 4 weeks after sample receipt.. 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 this test is to identify disease-causing variants in the NPC1 gene using next-generation sequencing technology. It helps confirm the molecular diagnosis of Niemann-Pick disease type C1, supports carrier testing for at-risk family members, and can be used for prenatal diagnosis when the familial mutation is known.
- Test Code
- 4432
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing
Sample Collection
No special preparation such as fasting is required. A pre-test genetic counselling session is recommended to draw a pedigree chart of family members affected with NPC1-associated Niemann-Pick disease.
Method: Peripheral blood draw / FTA card blood spot / DNA sample submission
Laboratory Analysis
A blood sample will be collected in an EDTA tube, or one drop of blood may be spotted on an FTA card, depending on the sample type chosen. If extracted DNA is being submitted, it will be checked for quantity and quality.
Report Delivery
No restrictions after collection. The sample will be transported to the laboratory and processed for NGS.
Timeline: Reports are issued 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 identify disease-causing variants in the NPC1 gene using next-generation sequencing technology. It helps confirm the molecular diagnosis of Niemann-Pick disease type C1, supports carrier testing for at-risk family members, and can be used for prenatal diagnosis when the familial mutation is known.
How to Prepare
- No fasting is required
- Blood can be collected in an EDTA tube
- One drop of blood can be collected on an FTA card
- Extracted DNA should be submitted in a properly labelled DNA tube
- Provide the laboratory with clinical history and any previous genetic test results if available
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic results for NPC1 should always be reviewed with the treating clinician. For known familial variants, carrier testing and prenatal diagnosis can help families make informed reproductive decisions."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient blood quantity or DNA concentration
- Improperly labelled sample
- Sample received in a broken or leaking container
- Sample collected in an incorrect container
Understanding Your Results
No pathogenic variant detected
No disease-causing change was found in the NPC1 gene. This reduces the likelihood of NPC1, but does not completely exclude it if clinical suspicion is strong.
Pathogenic variant detected - heterozygous
One altered copy of the NPC1 gene was identified. This may indicate carrier status or, in some contexts with another variant, disease. Clinical correlation is required.
Pathogenic variant detected - homozygous or compound heterozygous
Two altered copies of the NPC1 gene were identified, consistent with a molecular diagnosis of Niemann-Pick disease type C1 in an affected individual.
Variant of uncertain significance (VUS)
A DNA change was found, but its effect on NPC1 protein function is not yet known. Additional family studies or functional testing may be needed.
Consult your physician if you or your child have symptoms such as movement and coordination difficulty, cognitive decline, seizures, enlarged liver or spleen, swallowing or speech difficulty, or vision loss, or if there is a family history of Niemann-Pick disease type C1.
Limitations
- ⚠Targeted NGS may not detect large deletions, duplications, deep intronic variants, or copy number changes unless specific analysis is performed
- ⚠A negative result does not completely exclude Niemann-Pick disease type C1
- ⚠Variants of uncertain significance may require family studies and additional functional or biochemical testing
- ⚠This test does not analyse the NPC2 gene or other genes involved in Niemann-Pick disease
Risks & Considerations
- ●Minor discomfort, bruising, or bleeding at the blood collection site
- ●Potential anxiety or psychological stress from a genetic result
- ●Implications for family members regarding carrier status or inheritance
Interfering Factors
- ●Poor DNA quality or quantity can lead to inconclusive results
- ●Contamination with another person's DNA can cause incorrect results
- ●Some rare variants may not be detected by targeted NGS
- ●Clinical symptoms and family history should be considered while interpreting results
Compare With Similar Tests
| Test | NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test |
Frequently Asked Questions
What is Niemann-Pick disease type C1?
What does the NPC1 NGS genetic test detect?
How much does the NPC1 NGS genetic test cost at DNA Labs India?
What sample is required for this test?
Is fasting required before the test?
How long will it take to get the report?
Can this test be used for carrier testing?
Can this test be used for prenatal diagnosis?
Will I receive raw data files with the clinical report?
What does a negative result mean?
Does DNA Labs India provide home sample collection?
Should I have genetic counseling before or after this test?
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