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DNA Labs India

PRNP Gene Creutzfeldt-Jakob disease NGS Genetic Test

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PRNP Gene Creutzfeldt-Jakob disease NGS Genetic Test

Short Name: PRNP CJD NGS

Also known as: PRNP CJD Genetic Test, Prion Protein Gene NGS Test, Creutzfeldt-Jakob Disease Genetic Test

PRNP Gene Creutzfeldt-Jakob disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / Dried Blood Spot on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll (with counseling)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

This test uses Next-Generation Sequencing to identify disease-causing mutations in the PRNP gene associated with inherited Creutzfeldt-Jakob disease. It aids in confirming a clinical diagnosis, presymptomatic risk assessment, and family planning.

Test Code
3987
Price
₹20,000
Sample Type
Blood / Extracted DNA / Dried Blood Spot on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is required to draw a pedigree chart of family members affected with PRNP gene Creutzfeldt-Jakob disease. No fasting is required.

Method: Venipuncture / FTA card spot collection

Step 2

Laboratory Analysis

A blood sample is drawn by venipuncture, or a few drops of blood are collected on an FTA card.

Step 3

Report Delivery

No special precautions required. The sample should be transported to the laboratory at ambient room temperature.

Timeline: Reports are delivered in 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:A genetic counselling session to draw a pedigree chart of family members affected with PRNP gene Creutzfeldt-Jakob disease is required. No special preparation such as fasting is necessary.
2
During the Test:A simple blood sample or FTA card blood spot is collected. The procedure is quick and painless.
3
After the Test:You may resume normal activities immediately. The laboratory will share the report with raw data files within 3-4 weeks.

About This Test

Who Should Get This Test

This test uses Next-Generation Sequencing to identify disease-causing mutations in the PRNP gene associated with inherited Creutzfeldt-Jakob disease. It aids in confirming a clinical diagnosis, presymptomatic risk assessment, and family planning.

How to Prepare

  • No fasting is required
  • Complete genetic counselling before the test
  • Provide signed informed consent
  • Ensure the sample is labelled with patient details

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"As a neurologist, I recommend genetic counselling before and after PRNP testing for families with inherited prion disease. Early molecular diagnosis can guide care and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / Dried Blood Spot on FTA Card
ContainerEDTA blood collection tube / FTA card
Collection MethodVenipuncture / FTA card spot collection

Sample Stability

Keep sample at ambient room temperature until transport
Avoid freezing whole blood unless DNA is extracted
FTA card should be dried before sealing
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Sample received without a requisition form
  • Mismatch in patient identification details
  • FTA card not dried before transport

Understanding Your Results

This test identifies inherited pathogenic variants in the PRNP gene. A negative result reduces the likelihood of inherited CJD, but does not exclude sporadic or acquired forms.
📊

No pathogenic variant

Negative result; no evidence of inherited PRNP-related CJD.

📊

Pathogenic variant detected

Positive result; confirms diagnosis of inherited Creutzfeldt-Jakob disease.

📊

Variant of uncertain significance (VUS)

Further testing of family members may be required to determine significance.

⚠️ When to Consult a Doctor:

If you have a family history of prion disease or are experiencing rapidly progressive cognitive decline, consult a neurologist or clinical geneticist.

Limitations

  • ⚠This test only analyzes the PRNP gene and does not cover other prion protein genes
  • ⚠Large deletions/duplications may not be detected by standard NGS unless specifically analyzed
  • ⚠A negative result does not exclude sporadic or acquired CJD
  • ⚠Variants of uncertain significance may require additional family studies

Risks & Considerations

  • ●Minimal physical risks associated with blood draw (e.g., slight pain or bruising)
  • ●Psychological impact of receiving a positive result for a fatal neurological disease

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Prior bone marrow transplantation may affect germline testing

Frequently Asked Questions

What is Creutzfeldt-Jakob disease (CJD)?
CJD is a rare, degenerative, and fatal brain disorder caused by abnormal prion protein accumulation in the brain. It affects about 1 in every 1 million people worldwide and progresses rapidly, usually leading to death within a year of onset.
What is the PRNP gene?
PRNP is the prion protein gene that encodes the prion protein. Mutations in PRNP are associated with inherited forms of Creutzfeldt-Jakob disease.
What is the PRNP Gene CJD NGS Genetic Test?
This test uses Next-Generation Sequencing to analyze the entire PRNP gene for disease-causing mutations associated with inherited CJD.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection for online bookings.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required. Sample preparation is at ambient room temperature.
What is the turnaround time for results?
Reports are typically available in 3 to 4 weeks.
What technology is used for the test?
Next-Generation Sequencing (NGS), a highly accurate and sensitive method for detecting genetic mutations.
Why should I ask for raw data, FASTQ, and VCF files?
DNA Labs India provides raw data files (FASTQ, VCF) along with the clinical report for transparency, allowing further analysis or secondary opinions.
Who should consider this test?
Individuals with a family history of inherited CJD, those showing rapidly progressive dementia, or those requiring genetic counseling for PRNP-related disorders.
Can a negative result rule out CJD entirely?
No, a negative PRNP gene result does not rule out sporadic or acquired CJD, as those forms are not caused by inherited PRNP mutations.
Is genetic counseling recommended before the test?
Yes, a genetic counseling session is required before the test to draw a pedigree chart of family members affected with PRNP-related disease.
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

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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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