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NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test

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NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test

Short Name: NPC1 Gene NGS Test

Also known as: NPC1 Gene Test, Niemann-Pick Type C1 Genetic Test

NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Niemann-Pick disease type C1 by identifying mutations in the NPC1 gene using next-generation sequencing technology for accurate genetic confirmation.

Test Code
2195
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Niemann-Pick disease type C1.

Method: Standard blood draw or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw from a vein or collection of a drop of blood on an FTA card, following sterile techniques.

Step 3

Report Delivery

Label the sample correctly, transport at ambient room temperature, and store as per laboratory guidelines until analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide detailed clinical and family history to ensure appropriate test interpretation.
2
During the Test:Sample collection via blood draw or FTA card, followed by DNA extraction and NGS analysis in the laboratory.
3
After the Test:Receive the report within 3 to 4 weeks via online portal, email, or WhatsApp, and discuss results with a genetic counselor or physician.

About This Test

Who Should Get This Test

To diagnose Niemann-Pick disease type C1 by identifying mutations in the NPC1 gene using next-generation sequencing technology for accurate genetic confirmation.

How to Prepare

  • Collect blood in an EDTA tube or use an FTA card for one drop of blood
  • Ensure proper labeling with patient details and test information
  • Transport the sample at ambient room temperature promptly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for NPC1 can guide management, family planning, and improve outcomes through timely intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodStandard blood draw or FTA card collection

Sample Stability

Ambient room temperature for up to 24 hours
Long-term storage at -20°C for extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect container or improper labeling

Understanding Your Results

Test results indicate the presence or absence of mutations in the NPC1 gene, aiding in the diagnosis of Niemann-Pick disease type C1.
Negative result: No pathogenic variants detected in the NPC1 gene
Positive result: One or more pathogenic variants identified, consistent with NPC1
Variant of uncertain significance (VUS): Genetic change detected but clinical significance is unclear
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms suggestive of NPC1 are present, such as jaundice, enlarged organs, neurological issues, or for genetic counseling after a positive family history.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not assess for other genetic conditions or rule out all differential diagnoses

Risks & Considerations

  • ●Minimal risks from blood draw, such as pain, bruising, or rare infection
  • ●Potential psychological impact from test results, requiring genetic counseling support

Interfering Factors

  • ●Sample degradation or improper storage
  • ●Contamination during sample collection or processing
  • ●Incorrect sample type or insufficient volume

Frequently Asked Questions

What is the NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test?
This test uses next-generation sequencing to analyze the NPC1 gene for mutations that cause Niemann-Pick disease type C1, a rare genetic disorder affecting lipid metabolism.
What is the cost of the test at DNA Labs India?
The cost is INR 20,000, which includes the test, genetic counseling, and support services.
How is the test performed?
The test involves collecting a blood sample or DNA extract, which is then analyzed using NGS technology to detect NPC1 gene mutations.
What sample types are accepted?
Accepted samples include blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for the NPC1 Gene NGS Genetic Test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the NPC1 gene, confirming a diagnosis of Niemann-Pick disease type C1.
What are the symptoms of Niemann-Pick disease type C1?
Symptoms vary by age and may include jaundice, enlarged liver/spleen, feeding difficulties, coordination problems, cognitive decline, seizures, and psychiatric issues.
Is the test available in my city?
DNA Labs India offers home sample collection across numerous cities in India, including major metros and many other locations. Check availability during booking.
Does DNA Labs India provide genetic counseling?
Yes, genetic counseling is included in the test cost to help interpret results and provide guidance.
How accurate is the NGS Genetic Test?
The test is highly accurate using advanced NGS technology, capable of detecting even rare mutations that may be missed by other methods.
What should I do if I have a family history of NPC1?
Consider genetic testing for early diagnosis and consult a healthcare provider or genetic counselor for personalized advice and management planning.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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