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JPH3 Gene Huntington disease-like type 2 NGS Genetic Test

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JPH3 Gene Huntington disease-like type 2 NGS Genetic Test

Short Name: JPH3 HDL2 NGS Test

Also known as: JPH3 Gene Mutation Analysis, HDL2 Genetic Test, Huntington Disease-Like 2 NGS Testing

JPH3 Gene Huntington disease-like type 2 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 Results are typically available within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 detect pathogenic variants in the JPH3 gene, confirming the diagnosis of Huntington disease-like type 2 and aiding in clinical management and family counselling.

Test Code
4134
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A pre-test genetic counselling session is required to draw a pedigree chart of family members affected with JPH3 gene-related disorders. The doctor will explain the purpose, benefits, risks, and possible outcomes of the test. No specific preparation such as fasting is needed.

Method: Blood Draw or FTA Card Spot

Step 2

Laboratory Analysis

A qualified phlebotomist will collect a blood sample from your arm. If using an FTA card, a single drop of blood from a finger-prick will be applied to the card. The process is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately after sample collection. The sample will be securely transported to the laboratory for analysis. Your report will be shared online or via email within 3-4 weeks.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:Please schedule a pre-test genetic counselling session with our genetic expert. No other special preparation is required.
2
During the Test:A blood sample will be collected for analysis. The procedure is routine and causes minimal discomfort.
3
After the Test:Wait for your report, which will be delivered within 3-4 weeks. You may also receive a call from our genetic counsellor to explain the results.

About This Test

Who Should Get This Test

To detect pathogenic variants in the JPH3 gene, confirming the diagnosis of Huntington disease-like type 2 and aiding in clinical management and family counselling.

How to Prepare

  • No fasting required.
  • Carry your prescription or referral note if any.
  • Inform your doctor about any medications or supplements you are taking.

Doctor's Notes

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

"Genetic testing for HDL2 is indicated when Huntington disease is suspected but HTT gene mutation is absent. It helps provide accurate genetic counselling and family planning information."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS testing
ContainerEDTA Vacutainer or FTA Card
Collection MethodBlood Draw or FTA Card Spot

Sample Stability

Blood samples should be stored at room temperature and transported to the lab within 24-72 hours.
Extracted DNA should be stored at -20°C for long-term stability.
Sample Rejection Criteria:
  • Grossly haemolysed blood sample.
  • Mislabelled or unaccompanied sample.

Understanding Your Results

The clinical report includes a clear statement on the presence or absence of pathogenic variants in the JPH3 gene. Since the interpretation of genetic results can have significant medical and familial implications, a post-test genetic counselling session is advised.
📊

Negative (No pathogenic variant detected)

The individual is not likely to have Huntington disease-like type 2 due to JPH3 mutation. However, other genetic or non-genetic causes should be explored.

📊

Positive (Pathogenic variant detected)

The individual has a molecular diagnosis of Huntington disease-like type 2. Predictive testing of at-risk family members is recommended with genetic counselling.

📊

Variant of Uncertain Significance (VUS)

The significance of the variant is unclear. Additional family studies and further testing may be needed to determine its clinical relevance.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if you have symptoms suggestive of Huntington disease-like type 2, or if you have a family history of the condition and are considering genetic testing.

Limitations

  • ⚠This test detects mutations only in the JPH3 gene and does not rule out other forms of Huntington disease-like syndromes.
  • ⚠The test may not detect large deletions/duplications depending on the NGS method used.
  • ⚠Interpretation of variants requires expert geneticist review and may be reported as variants of uncertain significance.
  • ⚠Pre-symptomatic testing has ethical, psychological, and social implications and requires mandatory genetic counselling.

Risks & Considerations

  • ●There are no significant medical risks associated with a blood draw.
  • ●Possible minor bruising or soreness at the puncture site.
  • ●Psychological impact of receiving predictive or diagnostic genetic results.

Interfering Factors

  • ●Contaminated or degraded DNA may affect test results.
  • ●Haemolysed blood samples may interfere with DNA extraction.
  • ●Unknown variants of uncertain significance may require further analysis.

Frequently Asked Questions

What is the JPH3 Gene Huntington Disease-Like Type 2 NGS Genetic Test?
It is a specialized genetic test that uses next-generation sequencing (NGS) to detect mutations in the JPH3 gene, which are responsible for Huntington disease-like type 2, a rare neurodegenerative disorder.
How much does the JPH3 gene genetic test cost?
The cost of the test at DNA Labs India is INR 20000. This includes sample collection, NGS analysis, and a detailed clinical report.
What are the symptoms of Huntington disease-like type 2?
Symptoms include abnormal involuntary movements (jerking or writhing), difficulty with balance and coordination, cognitive decline with memory and concentration problems, and depression or anxiety.
Why should I choose DNA Labs India for this test?
DNA Labs India is transparent and provides raw data (FASTQ and VCF files) along with the conclusive clinical report. We also offer free home sample collection across India.
What sample is required for the JPH3 NGS genetic test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before sample collection.
What is the turnaround time for receiving the test report?
The test report is typically available within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive the raw data (FASTQ and VCF) with my report?
Yes, DNA Labs India is the only lab that transparently shares raw data, FASTQ, and VCF files along with the conclusive clinical report for JPH3 gene genetic testing.
Who should take this genetic test?
Individuals with symptoms suggestive of HDL2, those with a family history of the disorder, and individuals who tested negative for Huntington disease but have similar symptoms should consider this test.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic mutation in the JPH3 gene, which supports a diagnosis of Huntington disease-like type 2. Genetic counselling is essential to understand the implications.
Are there any risks involved in this test?
The test requires only a routine blood sample, so there is minimal risk. You may experience slight bruising or soreness at the needle site.
How can I book the JPH3 Gene Huntington Disease-Like Type 2 NGS Genetic Test?
You can book the test by visiting the DNA Labs India website or calling our customer care number. Home sample collection is available in over 200 cities across India.
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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