Skip to main content
DNA Labs India

PRNP Gene Gerstmann-Straussler disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRNP Gene Gerstmann-Straussler disease NGS Genetic Test

Short Name: PRNP GSD NGS Test

Also known as: GSD NGS Genetic Test, PRNP Gene Mutation Test, Gerstmann-Straussler Disease Genetic Test

PRNP Gene Gerstmann-Straussler disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation for positive variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered in 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS 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

The purpose is to detect pathogenic variants in the PRNP gene associated with Gerstmann-Straussler disease. It helps confirm the genetic diagnosis in symptomatic individuals and allows predictive testing for at-risk family members after appropriate counselling.

Test Code
4099
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 the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger confirmation for positive variants
Step 1

Sample Collection

No fasting is needed. A genetic counselling session is recommended to draw a family pedigree and explain the implications of genetic testing.

Method: Venipuncture or finger-prick blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample in an EDTA tube. For FTA card collection, a finger-prick blood spot is applied to the card.

Step 3

Report Delivery

No special precautions are needed. You may resume normal activities immediately.

Timeline: Reports are delivered in 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:Ensure you have completed a genetic counselling session before the test. Share relevant personal and family history with the laboratory.
2
During the Test:A blood sample is collected from a vein in your arm. If using FTA card, a finger-prick blood spot is placed on the card.
3
After the Test:No recovery time required. Your sample is processed for NGS analysis and results are shared in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose is to detect pathogenic variants in the PRNP gene associated with Gerstmann-Straussler disease. It helps confirm the genetic diagnosis in symptomatic individuals and allows predictive testing for at-risk family members after appropriate counselling.

How to Prepare

  • Book the test online for free home sample collection.
  • Ensure the clinical history and consent form are completed before sample collection.
  • Use proper patient identification on the sample tube / FTA card.
  • If using blood, use an EDTA vacutainer.
  • If using FTA card, apply one drop of blood to the marked circles and air dry.

Doctor's Notes

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

"A positive PRNP result has profound implications for the patient and family. I strongly recommend that this test is offered only with pre-test and post-test genetic counselling by trained professionals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeOne blood sample (EDTA tube) or one spot on FTA card
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture or finger-prick blood spot

Sample Stability

Whole blood: 24-48 hours at 2-8°C if not processed immediately
Extracted DNA: Stable at -20°C for up to 1 year
FTA card: Stable at room temperature for several months
Sample Rejection Criteria:
  • Improperly labelled sample
  • Clotted or haemolysed blood sample
  • Leaked or contaminated sample
  • Incomplete clinical history or missing consent

Understanding Your Results

The PRNP gene provides instructions for making prion protein. Normal prion protein plays a role in the nervous system, while misfolded prion proteins cause disease. A pathogenic PRNP variant can lead to Gerstmann-Straussler disease. The NGS result should be correlated with clinical presentation and family history.
📊

Positive

A pathogenic or likely pathogenic PRNP variant confirms the molecular diagnosis of Gerstmann-Straussler disease in a symptomatic patient. At-risk relatives may undergo predictive testing after counselling.

📊

Negative

No pathogenic PRNP variant was found. This reduces but does not exclude inherited prion disease; other genetic or non-genetic causes should be evaluated.

📊

Variant of Uncertain Significance (VUS)

A VUS was identified. This cannot be used to confirm or exclude GSD. Further family segregation studies may help reclassify the variant.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if you or a family member have progressive neurological symptoms such as ataxia, dementia, personality change, or muscle stiffness, or if there is a known family history of GSD or prion disease.

Limitations

  • ⚠NGS may not reliably detect large deletions, duplications, repeat expansions, or deep intronic variants.
  • ⚠A variant of uncertain significance (VUS) may be reported; this cannot always guide clinical decisions without further family studies.
  • ⚠A negative result does not exclude non-genetic prion disease, such as sporadic Creutzfeldt-Jakob disease.

Risks & Considerations

  • ●No significant physical risks for blood collection
  • ●Possible mild pain, bruising, or light-headedness at the blood draw site
  • ●No special post-procedure precautions required

Interfering Factors

  • ●Non-standard sample collection causing DNA degradation
  • ●Clotted or haemolysed blood sample
  • ●Contamination with another person's cells
  • ●Recent allogeneic bone marrow transplant leading to mixed DNA profile

Compare With Similar Tests

TestPRNP Gene Gerstmann-Straussler disease NGS Genetic Test
ComparisonPRNP Gene Gerstmann-Straussler disease NGS Genetic Test

Frequently Asked Questions

What is Gerstmann-Straussler disease?
Gerstmann-Straussler disease (GSD) is a rare inherited prion disease caused by PRNP gene mutations. It affects the nervous system and leads to progressive ataxia, muscle stiffness, cognitive decline, and behavioural changes.
What does the PRNP gene NGS genetic test detect?
The test detects mutations in the PRNP gene using next-generation sequencing. It is designed to identify pathogenic variants that cause Gerstmann-Straussler disease and related inherited prion disorders.
Who should consider this test?
Individuals with symptoms suggestive of GSD, those with a family history of inherited prion disease, and asymptomatic adults who have received genetic counselling may consider this test.
What is the cost of the test?
The cost is Rs 20000 in India. This includes genetic counselling, NGS analysis, interpretation, and home sample collection in most cities.
What sample is required?
A blood sample in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required?
No fasting is required. The sample can be collected at any time of the day.
How will I receive the report?
The clinical report and raw data files will be delivered through the online portal, email, and WhatsApp within 3 to 4 weeks.
What is the role of genetic counselling in this test?
Genetic counselling helps draw a family pedigree, explain the risks and benefits of genetic testing, and interpret the implications of a positive or negative result.
What does a positive test result mean?
A pathogenic or likely pathogenic PRNP variant confirms the molecular diagnosis of Gerstmann-Straussler disease in a symptomatic individual and may allow predictive testing in at-risk relatives.
What does a negative test result mean?
A negative result does not completely exclude GSD or other prion diseases, but it lowers the likelihood of a PRNP-related cause and helps guide further evaluation.
Can home sample collection be arranged?
Yes, DNA Labs India offers free home sample collection across major Indian cities for this test when booked online.
Why does DNA Labs India provide raw data files?
DNA Labs India shares FASTQ and VCF raw data with the clinical report to ensure transparency and allow independent reanalysis.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.