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DNA Labs India

Huntington Disease (HD) Mutation Screening Test

DNA Labs India | ISO 9001:2015 Certified

Huntington Disease (HD) Mutation Screening Test

Short Name: HD Mutation Screening

Also known as: HD Genetic Test, HTT Gene Mutation Test, Huntington's Disease DNA Test

Huntington Disease (HD) Mutation Screening Test test available at DNA Labs India for ₹8,000. Uses End Point PCR on Peripheral blood samples. Results in Results are typically available within 7 days after sample collection.. Free home collection in 300+ cities across India.

Genetic Mutation ScreeningAdults (18+ years)🏠 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

The purpose of HD mutation screening is to detect the presence of expanded CAG repeats in the HTT gene, confirming a diagnosis of Huntington Disease or assessing risk for developing the condition. It aids in genetic counseling, family planning, and early intervention strategies.

Test Code
3044
Price
₹8,000
Sample Type
Peripheral blood
Result Time
Results are typically available within 7 days after sample collection.
Fasting Required
No
Method
End Point PCR
Step 1

Sample Collection

No special preparation is required. A doctor's prescription may be needed in some cases, but it is not applicable for surgery, pregnancy, or travel abroad.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities unless advised otherwise.

Timeline: Results are typically available within 7 days after sample collection.

Patient Instructions

1
Before the Test:Obtain a doctor's prescription if required. No fasting or special preparation needed.
2
During the Test:Blood sample collection via venipuncture, typically taking a few minutes.
3
After the Test:Results are available online within 7 days. Follow up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of HD mutation screening is to detect the presence of expanded CAG repeats in the HTT gene, confirming a diagnosis of Huntington Disease or assessing risk for developing the condition. It aids in genetic counseling, family planning, and early intervention strategies.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment and EDTA vacutainer
  • Label the sample correctly with patient details
  • Transport the sample at ambient temperature to the lab

Doctor's Notes

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

"Genetic screening for Huntington Disease is vital for early detection, family planning, and informed decision-making. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Ambient: 24 hours
Refrigerated: 72 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect container or insufficient volume
  • Missing patient information or consent

Understanding Your Results

Results from HD mutation screening indicate the presence and size of CAG repeats in the HTT gene. Interpretation should be done by a qualified healthcare professional.
📊

Negative (Normal)

No expanded CAG repeats detected; low risk for HD.

📊

Intermediate

CAG repeats between 36-39; may not develop HD but risk to offspring.

📊

Positive (Expanded)

CAG repeats ≥40; diagnosis of HD or high risk for developing the disease.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if you have a family history of HD, experience symptoms, or receive a positive or intermediate test result for further evaluation and management.

Limitations

  • ⚠Cannot predict the exact age of symptom onset or disease severity
  • ⚠Results require interpretation by a genetic counselor or physician
  • ⚠Does not detect other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or fainting
  • ●Emotional impact of results; genetic counseling recommended

Interfering Factors

  • ●Sample hemolysis
  • ●Improper sample storage
  • ●Contamination during collection

Compare With Similar Tests

TestHuntington Disease (HD) Mutation ScreeningNeurological ExaminationBrain MRIGenetic CounselingOther Genetic Panels
ComparisonHuntington Disease (HD) Mutation Screening

Frequently Asked Questions

What is Huntington Disease?
Huntington Disease is a genetic disorder that causes progressive degeneration of nerve cells in the brain, leading to motor, cognitive, and psychiatric symptoms.
How is the HD mutation screening test performed?
The test analyzes the HTT gene from a blood sample using End Point PCR to detect expanded CAG repeats.
What is the cost of the HD mutation screening test?
The test costs INR 8000 at DNA Labs India, including home sample collection.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are available within 7 days after sample collection.
What does a positive result mean?
A positive result indicates expanded CAG repeats in the HTT gene, confirming HD diagnosis or high risk for developing the disease.
Can the test predict when symptoms will start?
No, the test detects the mutation but cannot predict the exact age of symptom onset or severity.
Is genetic counseling recommended?
Yes, genetic counseling is highly recommended before and after testing to understand implications and for family planning.
Are there any risks to the test?
Risks are minimal, such as bruising from blood draw, but emotional impact may require counseling.
How accurate is the test?
The test is highly accurate using advanced PCR technology, but results should be interpreted by a healthcare professional.
Can I get the test done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What should I do if I have a family history of HD?
Consider genetic testing and consult a genetic counselor for risk assessment and guidance.
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.

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.

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