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PRNP Gene Fatal familial imsomnia NGS Genetic Test

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PRNP Gene Fatal familial imsomnia NGS Genetic Test

Short Name: FFI NGS Genetic Test

Also known as: PRNP Mutation Test, FFI Genetic Test, Prion Disease Genetic Test

PRNP Gene Fatal familial imsomnia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAdults (40-50 years)🏠 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 identify mutations in the PRNP gene associated with Fatal Familial Insomnia for diagnostic confirmation, family risk assessment, and genetic counselling.

Test Code
1611
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation needed. Genetic counselling recommended before testing.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger-prick by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Sample sent to laboratory for analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counselling is recommended to understand implications. Provide clinical and family history.
2
During the Test:Simple blood draw or saliva collection. Minimal discomfort.
3
After the Test:Wait for report (3-4 weeks). Follow-up with healthcare provider for result interpretation.

About This Test

Who Should Get This Test

To identify mutations in the PRNP gene associated with Fatal Familial Insomnia for diagnostic confirmation, family risk assessment, and genetic counselling.

How to Prepare

  • Ensure proper patient identification
  • Use aseptic technique
  • Label sample correctly
  • Transport sample as per guidelines

Doctor's Notes

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

"Fatal Familial Insomnia is a rare prion disorder; genetic testing via NGS is essential for accurate diagnosis, family screening, and informed management decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: 2-8°C for up to 72 hours
Extracted DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PRNP gene associated with Fatal Familial Insomnia.
Positive: Pathogenic variant detected - confirms genetic predisposition to FFI, requires clinical correlation and genetic counselling.
Negative: No pathogenic variants detected - reduces likelihood of FFI due to PRNP mutations, but does not exclude other causes.
Variant of Uncertain Significance (VUS) - further evaluation needed.
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic counsellor if you have symptoms of FFI, a family history of the disease, or if test results are positive or uncertain.

Limitations

  • ⚠May not detect all rare or novel PRNP mutations
  • ⚠Requires confirmation by orthogonal methods like Sanger sequencing
  • ⚠Results must be interpreted in clinical context
  • ⚠Does not rule out other prion diseases

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, slight pain
  • ●Psychological impact of genetic results
  • ●No significant medical risks

Interfering Factors

  • ●Sample contamination
  • ●Improper sample handling or storage
  • ●Technical errors in sequencing
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestPRNP Gene Fatal familial imsomnia NGS Genetic TestSanger Sequencing for PRNPCSF 14-3-3 Protein TestBrain MRI
ComparisonPRNP Gene Fatal familial imsomnia NGS Genetic Test

Frequently Asked Questions

What is Fatal Familial Insomnia (FFI)?
FFI is a rare genetic disorder caused by PRNP gene mutations, leading to progressive insomnia and neurological decline, ultimately resulting in death.
What causes FFI?
FFI is caused by autosomal dominant mutations in the PRNP gene, which lead to abnormal prion protein accumulation in the brain.
How is FFI diagnosed?
FFI is diagnosed through genetic testing, such as NGS of the PRNP gene, to identify pathogenic mutations.
What is the PRNP gene?
The PRNP gene encodes the prion protein; mutations in this gene are associated with prion diseases like FFI.
How accurate is the NGS genetic test for FFI?
NGS is highly accurate for detecting PRNP gene mutations, but results should be confirmed with genetic counselling and clinical evaluation.
Is the test painful?
The test involves a simple blood draw or saliva collection, which may cause minimal discomfort but is generally painless.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
Can FFI be prevented?
There is no cure or prevention for FFI, but genetic testing helps in early diagnosis and family planning.
What is the treatment for FFI?
There is no cure; management focuses on palliative care and symptom relief. Genetic counselling is crucial for affected families.
Is genetic testing necessary if I have symptoms?
Yes, genetic testing is recommended for definitive diagnosis if symptoms or family history suggest FFI.
How much does the test cost?
The PRNP Gene FFI NGS Genetic Test costs INR 20000 at DNA Labs India, with free home sample collection.
Where can I get this test done?
DNA Labs India offers this test across India with home collection services in major cities. Book online or contact for details.
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.

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