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Huntington Disease Mutation Detection Test

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Huntington Disease Mutation Detection Test

Short Name: HD Mutation Detection

Also known as: Huntington's Disease Genetic Test, HTT Gene Mutation Analysis, Huntingtin Gene CAG Repeat Analysis, HD Genetic Screening Test, Huntington Disease DNA Test

Huntington Disease Mutation Detection Test test available at DNA Labs India for ₹8,000. Uses PCR (Polymerase Chain Reaction), Fragment Analysis on Whole Blood samples. Results in 10 Working Days from sample receipt at the laboratory. Free home collection in 300+ cities across India.

Molecular 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

The purpose of the Huntington Disease Mutation Detection Test is to determine the exact number of CAG trinucleotide repeats in the HTT gene. This test is used for diagnostic confirmation in symptomatic individuals, predictive testing in asymptomatic at-risk individuals, and prenatal testing when a parent is known to carry the mutation. Accurate CAG repeat quantification helps classify individuals as normal, intermediate, or affected. The results support clinical decision-making, family planning, genetic counseling, and long-term care planning.

Test Code
845
CPT Code
81171
ICD Code
G10
Price
₹8,000
Sample Type
Whole Blood
Result Time
10 Working Days from sample receipt at the laboratory
Fasting Required
No
Method
PCR (Polymerase Chain Reaction), Fragment Analysis
Step 1

Sample Collection

A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before sample collection. Pre-test genetic counseling is strongly recommended, especially for predictive or presymptomatic testing. No fasting is required. Inform the laboratory of any relevant family history and prior genetic test results.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect approximately 4 mL of whole blood via standard venipuncture into a Lavender top (EDTA) tube. The procedure takes only a few minutes and involves minimal discomfort similar to any routine blood draw.

Step 3

Report Delivery

After collection, the sample is labeled, stored at refrigerated temperature (2–8°C), and shipped to the testing laboratory. Do not freeze the sample. Results are typically available within 10 working days from sample receipt. Reports are delivered via online portal, email, or WhatsApp.

Timeline: 10 Working Days from sample receipt at the laboratory

Patient Instructions

1
Before the Test:Before the test, a genetic counselor or physician will discuss the implications of testing, especially for predictive (presymptomatic) cases. A Genomics Clinical Information Requisition Form (Form 20) must be completed. No fasting or special preparation is required for the blood draw.
2
During the Test:A healthcare professional will draw approximately 4 mL of blood from a vein in your arm using standard venipuncture. The blood is collected in an EDTA tube. The entire collection process takes less than 10 minutes.
3
After the Test:After blood collection, a small bandage is applied to the puncture site. There is no downtime. The sample is sent to the laboratory for PCR-based fragment analysis. Results are typically available within 10 working days and are delivered digitally.

About This Test

Who Should Get This Test

The purpose of the Huntington Disease Mutation Detection Test is to determine the exact number of CAG trinucleotide repeats in the HTT gene. This test is used for diagnostic confirmation in symptomatic individuals, predictive testing in asymptomatic at-risk individuals, and prenatal testing when a parent is known to carry the mutation. Accurate CAG repeat quantification helps classify individuals as normal, intermediate, or affected. The results support clinical decision-making, family planning, genetic counseling, and long-term care planning.

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
  • Collect 4 mL (2 mL minimum) of whole blood in 1 Lavender top (EDTA) tube
  • Ship the sample refrigerated. DO NOT FREEZE
  • Ensure proper labeling with patient details and sample ID
  • Pre-test genetic counseling is recommended for predictive or presymptomatic testing

Doctor's Notes

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

"Huntington disease is an autosomal dominant condition with a 50% transmission risk to offspring. Genetic testing is essential for individuals with a family history who are planning a family. Preconception and prenatal genetic counseling should accompany any decision to undergo testing. Early identification allows informed reproductive choices, including preimplantation genetic testing (PGT) during IVF. Patients should be psychologically prepared before pursuing predictive testing, and referral to a certified genetic counselor is strongly recommended."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL minimum)
Container1 Lavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature
Refrigerated (2–8°C)
Frozen
Sample Rejection Criteria:
  • Sample collected in incorrect tube type (non-EDTA)
  • Frozen blood samples
  • Samples with insufficient volume (less than 2 mL)
  • Samples without proper labeling or documentation
  • Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
  • Heavily hemolyzed or contaminated samples

Understanding Your Results

The Huntington Disease Mutation Detection Test reports the number of CAG trinucleotide repeats in each HTT allele. Results are interpreted based on established clinical guidelines as follows:
📊

Normal. The individual is not at risk of developing Huntington disease and will not pass the disease-causing mutation to offspring through this allele.

Range: Less than 26 CAG repeats

📊

Intermediate (also called mutable normal or reduced penetrance range). The individual is unlikely to develop symptoms but may pass an expanded allele to offspring. Genetic counseling is strongly recommended.

Range: 26 to 39 CAG repeats

📊

Pathogenic. The individual is expected to develop Huntington disease during their lifetime, or is already affected if symptomatic. Offspring have a 50% chance of inheriting the expanded allele.

Range: 40 or more CAG repeats

⚠️ When to Consult a Doctor:

Consult a neurologist or medical geneticist if you or a family member experience involuntary movements (chorea), progressive cognitive decline, personality or behavioral changes, difficulty with coordination or speech, or if you have a known family history of Huntington disease. Individuals with intermediate-range results (26–39 CAG repeats) should seek genetic counseling to understand the implications for themselves and their children.

Limitations

  • ⚠This test detects CAG repeat expansions in the HTT gene only; it does not evaluate other genes associated with Huntington-like disorders
  • ⚠The test cannot predict the age of onset, severity, or rate of disease progression
  • ⚠Intermediate-range results (26–39 repeats) carry uncertain clinical significance and may require additional genetic counseling
  • ⚠Mosaicism or very large expansions may rarely affect detection sensitivity
  • ⚠Results should always be interpreted in conjunction with clinical findings and family history by a qualified geneticist or neurologist

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Very slight risk of infection at the puncture site
  • ●Psychological and emotional impact of results, particularly in predictive testing scenarios
  • ●Potential implications for insurance, employment, and family dynamics (addressed by genetic counseling)

Interfering Factors

  • ●Degraded or insufficient DNA quality due to improper sample storage or transport
  • ●Contamination of the blood sample during collection or handling
  • ●Extreme CAG repeat expansions (greater than 100 repeats) may occasionally require specialized long-range PCR techniques
  • ●Use of frozen samples (test requires refrigerated, not frozen, samples)

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Frequently Asked Questions

What is the Huntington Disease Mutation Detection Test?
The Huntington Disease Mutation Detection Test is a molecular genetic test that analyzes the HTT gene on chromosome 4 to determine the number of CAG trinucleotide repeats. An expansion of 40 or more CAG repeats confirms a diagnosis of Huntington disease. The test is performed using PCR and fragment analysis on a blood sample.
Who should get the Huntington Disease Mutation Detection Test?
This test is recommended for individuals showing symptoms of Huntington disease (such as chorea, cognitive decline, and psychiatric changes), asymptomatic individuals with a family history of HD who want predictive testing, and prenatal testing when a parent carries the confirmed mutation.
What sample is required for this test?
The test requires 4 mL (2 mL minimum) of whole blood collected in a Lavender top (EDTA) tube. The sample must be shipped refrigerated and should not be frozen. A completed Genomics Clinical Information Requisition Form (Form 20) is mandatory.
How much does the Huntington Disease Mutation Detection Test cost in India?
The cost of the Huntington Disease Mutation Detection Test at DNA Labs India is INR 8000. This includes sample collection, test processing, and digital report delivery. Free home sample collection is available across India for online bookings.
How long does it take to get the test results?
Results are typically available within 10 working days from the date the sample is received at the laboratory. Reports are delivered via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the Huntington Disease Mutation Detection Test across numerous cities in India. You can book the test online and a trained phlebotomist will visit your location to collect the sample.
What do the test results mean?
Results report the number of CAG repeats in the HTT gene. Fewer than 26 repeats is normal. 26 to 39 repeats is an intermediate range with uncertain clinical significance. 40 or more repeats is pathogenic and confirms Huntington disease or future risk of developing it. Genetic counseling is recommended to understand results.
Can this test be done during pregnancy (prenatal testing)?
Yes, the Huntington Disease Mutation Detection Test can be performed prenatally using chorionic villus sampling (CVS) or amniocentesis to determine if a fetus has inherited the mutated HTT gene from an affected parent. Genetic counseling is essential before and after prenatal testing.
Is there a cure for Huntington disease?
Currently, there is no cure for Huntington disease. Treatment focuses on managing symptoms through medications (such as tetrabenazine for chorea), physical therapy, occupational therapy, speech therapy, and psychological support. Research into gene therapy and other disease-modifying treatments is ongoing.
How accurate is the Huntington Disease Mutation Detection Test?
The test uses PCR-based fragment analysis, which is a highly accurate and well-established method for detecting CAG repeat expansions in the HTT gene. The analytical sensitivity and specificity are very high. Results should be interpreted by a qualified geneticist or neurologist in the context of clinical findings and family history.
Do I need a doctor's referral for this test?
A referral from a neurologist or geneticist is recommended, especially for predictive or presymptomatic testing. Pre-test genetic counseling is strongly advised. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for sample processing.
Is genetic counseling recommended before taking this test?
Yes, genetic counseling is strongly recommended before and after the Huntington Disease Mutation Detection Test, particularly for predictive testing in asymptomatic individuals. A genetic counselor can explain the implications of results, inheritance patterns, family planning options, and provide psychological support.
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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