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DNA Labs India

PRNP Gene Huntington disease-like type 1 NGS Genetic Test

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PRNP Gene Huntington disease-like type 1 NGS Genetic Test

Short Name: PRNP HDL1 NGS Test

Also known as: PRNP Gene Mutation Test, Prion Protein Gene NGS Test, Huntington Disease-Like Type 1 Genetic Test

PRNP Gene Huntington disease-like type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to detect pathogenic variants in the PRNP gene to confirm a diagnosis of Huntington disease-like type 1, guide genetic counseling, and support family planning decisions.

Test Code
4135
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Pre-test genetic counseling is recommended to review clinical history, document symptoms, and draw a family pedigree. Please carry a valid government ID and doctor's prescription if available.

Method: Venous blood draw / FTA blood spot

Step 2

Laboratory Analysis

A standard blood sample is collected by a trained phlebotomist. For FTA card samples, a few drops of blood are applied to the filter paper card.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be securely transported to the laboratory for NGS analysis.

Timeline: Reports are issued within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Discuss your symptoms and family history with your doctor. Pre-test genetic counseling is recommended to understand the benefits, limitations, and possible outcomes of genetic testing.
2
During the Test:The genetic test requires a simple blood sample or FTA card blood spot. No sedation or special preparation is required.
3
After the Test:You can return to your daily activities immediately. The laboratory will share the report within 3 to 4 weeks through the chosen delivery method.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the PRNP gene to confirm a diagnosis of Huntington disease-like type 1, guide genetic counseling, and support family planning decisions.

How to Prepare

  • No special preparation is needed for this test.
  • Carry any previous medical records, imaging reports, or genetic testing reports if available.
  • Inform the laboratory about the patient's clinical symptoms and family history.
  • For blood collection, an EDTA tube is commonly used; confirm with the laboratory for the exact sample requirement.

Doctor's Notes

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

"A detailed neurological evaluation and genetic counseling are essential when assessing patients with suspected PRNP-related disorders. The test result must be interpreted alongside clinical findings, family history, and relevant neurological investigations."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per DNA extraction requirement
ContainerEDTA vacutainer / sterile DNA tube / FTA card
Collection MethodVenous blood draw / FTA blood spot

Sample Stability

Whole blood: transport to the laboratory within 48 hours at room temperature or refrigerated at 2-8°C.
Extracted DNA: stable for several days at 4°C and for longer periods at -20°C.
FTA card: stable at ambient temperature for transport and storage.
Sample Rejection Criteria:
  • Heavily hemolyzed or clotted blood sample
  • Inadequate DNA quantity or quality
  • Sample with incorrect or missing patient identification
  • Sample received in expired or wrong collection tube

Understanding Your Results

The NGS test evaluates the entire coding region of the PRNP gene for disease-causing variants. Results are interpreted by clinical geneticists using standard variant classification guidelines.
📊

Positive / Pathogenic variant

A disease-causing variant was identified in the PRNP gene, confirming the genetic diagnosis in an appropriate clinical context.

📊

Negative / No pathogenic variant

No known disease-causing variant was detected. This does not completely exclude a genetic cause; clinical correlation is required.

📊

Variant of uncertain significance (VUS)

A variant was found whose effect on protein function is unknown. Additional family studies or functional studies may be needed.

📊

Likely benign / Benign variant

The variant is not believed to be associated with disease.

⚠️ When to Consult a Doctor:

Consult a neurologist or medical geneticist if you or a family member have symptoms such as unexplained muscle stiffness, tremors, balance problems, cognitive decline, or behavioral changes. A doctor will help decide if genetic testing is appropriate and can explain the implications of the results.

Limitations

  • NGS may not detect large deletions, insertions, repeat expansions, or methylation abnormalities.
  • A negative result does not rule out genetic prion disease caused by other genes or non-genetic causes.
  • Variant classification may change over time as new scientific evidence emerges.
  • The test cannot predict age of onset or disease severity.

Risks & Considerations

  • Blood draw may cause minor pain, bruising, or light-headedness.
  • Genetic results may have psychological and emotional implications.
  • Incidental or uncertain findings may require additional counseling and follow-up.

Interfering Factors

  • Insufficient or degraded DNA
  • Sample contamination
  • Incorrect sample labeling
  • Presence of genetic variants outside the analyzed region
  • Lack of detailed clinical information for variant interpretation

Compare With Similar Tests

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Frequently Asked Questions

What is the cost of the PRNP gene Huntington disease-like type 1 NGS genetic test?
At DNA Labs India, the test costs Rs 20,000. This includes NGS-based analysis of the PRNP gene and the associated clinical report. Free home sample collection is available for online bookings in many cities across India.
What is PRNP gene Huntington disease-like type 1?
Huntington disease-like type 1 is a rare genetic neurological disorder caused by mutations in the PRNP gene. These mutations cause abnormal folding of prion protein in the brain, resulting in nerve cell damage and symptoms similar to Huntington disease.
What sample is needed for this test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card. The sample is used to extract DNA for next-generation sequencing of the PRNP gene.
Do I need to fast before the test?
No, fasting is not required for the PRNP gene Huntington disease-like type 1 NGS genetic test.
How long will the reports take?
The reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Why is NGS used for this genetic test?
Next-generation sequencing provides highly accurate and comprehensive analysis of the PRNP gene, allowing detection of mutations that might be missed by traditional targeted testing. It is considered an advanced method for single-gene disorder diagnosis.
Will I receive raw data files with the report?
Yes. DNA Labs India shares raw data files, including FASTQ and VCF files, along with the conclusive clinical report. This transparency supports further interpretation and future clinical use.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection for online bookings in over 500 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more.
Who should consider this PRNP NGS test?
Individuals with symptoms such as muscle rigidity, tremors, coordination problems, cognitive decline, or behavioral changes, and those with a family history of PRNP-related disease, may consider this test after doctor consultation.
Is genetic counseling required before testing?
Pre-test genetic counseling is strongly recommended. It helps document family history, draw a pedigree chart, and understand the clinical implications before undergoing genetic testing.
What does a positive or negative result mean?
A positive result indicates that a pathogenic variant in the PRNP gene was detected. A negative result means that no known pathogenic variant was found. A variant of uncertain significance may also be detected and may require further evaluation.
Is the test covered by health insurance?
Most government health schemes do not currently cover this genetic test. Private insurance coverage depends on the individual policy. It is best to confirm with the laboratory and your insurance provider before testing.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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