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DRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis Test

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DRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis Test

Short Name: DRPLA Gene Analysis Test

Also known as: Dentatorubral-Pallidoluysian Atrophy

DRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis Test test available at DNA Labs India for ₹7,500. Uses PCR Fragment Analysis on Whole blood samples. Results in Reports are typically delivered within 4-5 business days after sample receipt, with options for online portal, email, or WhatsApp delivery.. Free home collection in 300+ cities across India.

Genetic Test🏠 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 the DRPLA Gene Analysis Test is to detect CAG repeat expansions in the ATN1 gene, which are responsible for causing Dentatorubral-Pallidoluysian Atrophy. This test helps confirm clinical diagnosis, differentiate DRPLA from other neurological disorders, guide management strategies, facilitate genetic counseling for at-risk family members, and support research into this condition. It is recommended for individuals with symptoms such as uncontrolled movements, tremors, balance issues, speech difficulties, or mental health problems, especially if there is a family history of similar disorders.

Test Code
507
Price
₹7,500
Sample Type
Whole blood
Result Time
Reports are typically delivered within 4-5 business days after sample receipt, with options for online portal, email, or WhatsApp delivery.
Fasting Required
No
Method
PCR Fragment Analysis
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting is required. Inform the healthcare provider of any medications or medical conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample (4 mL, minimum 2 mL) will be drawn via venipuncture into a Lavender Top (EDTA) tube. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. The sample will be shipped refrigerated (not frozen) to the laboratory for analysis.

Timeline: Reports are typically delivered within 4-5 business days after sample receipt, with options for online portal, email, or WhatsApp delivery.

Patient Instructions

1
Before the Test:Complete the Genomics Clinical Information Requisition Form (Form 20). No fasting required. Discuss any concerns with your healthcare provider.
2
During the Test:A blood sample is collected via venipuncture. The process takes a few minutes and is generally painless.
3
After the Test:Apply a bandage to the puncture site. Resume normal activities. Results will be available in 4-5 business days.

About This Test

Who Should Get This Test

The purpose of the DRPLA Gene Analysis Test is to detect CAG repeat expansions in the ATN1 gene, which are responsible for causing Dentatorubral-Pallidoluysian Atrophy. This test helps confirm clinical diagnosis, differentiate DRPLA from other neurological disorders, guide management strategies, facilitate genetic counseling for at-risk family members, and support research into this condition. It is recommended for individuals with symptoms such as uncontrolled movements, tremors, balance issues, speech difficulties, or mental health problems, especially if there is a family history of similar disorders.

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Collect 4 mL (2 mL min.) whole blood in a Lavender Top (EDTA) tube.
  • Ship the sample refrigerated; do not freeze.
  • Label the sample correctly with patient details.
  • Ensure home collection is booked online for free service in listed cities.

Doctor's Notes

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

"Early genetic testing for DRPLA is essential for accurate diagnosis, symptom management, and family planning counseling in individuals with neurological symptoms or a family history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume4 mL (2 mL min.)
ContainerLavender Top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature
Refrigerator (2-8°C)
Frozen
Sample Rejection Criteria:
  • Sample received without Genomics Clinical Information Requisition Form (Form 20)
  • Insufficient sample volume (<2 mL)
  • Sample hemolyzed, clotted, or improperly collected
  • Sample stored at room temperature for more than 6 hours
  • Incorrect tube type or missing labels

Understanding Your Results

Interpretation of the DRPLA Gene Analysis Test results should be done by a qualified geneticist or neurologist in conjunction with clinical findings. Results indicate the presence or absence of pathogenic CAG repeat expansions in the ATN1 gene.
📊

Positive for pathogenic expansion (≥49 repeats)

Confirms diagnosis of DRPLA. Genetic counseling and management planning are recommended.

📊

Intermediate range (36-47 repeats)

May indicate reduced penetrance or risk of expansion in offspring. Further clinical assessment and family studies advised.

📊

Normal (<36 repeats)

No pathogenic expansion detected in the ATN1 gene. Clinical symptoms may be due to other causes; consider differential diagnosis.

📊

Inconclusive or technical failure

Repeat testing or alternative methods may be needed. Consult with laboratory for guidance.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as uncontrolled movements, tremors, difficulty walking or balancing, speech or swallowing problems, or mental health issues, especially if there is a family history of DRPLA or similar neurological disorders. Early consultation can facilitate timely genetic testing and management.

Limitations

  • ⚠This test only detects CAG repeat expansions in the ATN1 gene; it may not identify other genetic causes of similar symptoms.
  • ⚠Results require clinical correlation and genetic counseling for accurate interpretation.
  • ⚠False negatives or positives are rare but possible due to technical limitations.
  • ⚠Does not predict disease progression or severity with absolute certainty.
  • ⚠Not suitable for prenatal diagnosis without additional confirmatory testing.

Risks & Considerations

  • ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site.
  • ●Rare allergic reaction to antiseptic used during collection.
  • ●Emotional impact of genetic results; genetic counseling is recommended.

Interfering Factors

  • ●Contaminated or improperly collected blood sample
  • ●Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
  • ●Sample storage beyond stability limits (e.g., frozen or at room temperature for too long)
  • ●Technical errors during PCR analysis
  • ●Presence of other genetic variants that may affect interpretation

Compare With Similar Tests

TestDRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis TestHuntington's Disease Gene TestSpinocerebellar Ataxia (SCA) PanelWhole Exome SequencingMRI Brain
ComparisonDRPLA (Dentatorubral-Pallidoluysian Atrophy) Gene Analysis TestBoth involve CAG repeat expansions but in different genes (HTT vs. ATN1). Symptoms overlap, but DRPLA may have more variable onset.Tests multiple genes for ataxias; DRPLA is a specific type that may be included in comprehensive panels.Broad genetic test that can identify DRPLA among other conditions; more comprehensive but costlier and with longer turnaround.Imaging test that can show brain changes in DRPLA but cannot confirm genetic diagnosis; complementary to gene analysis.

Frequently Asked Questions

What is DRPLA?
DRPLA stands for Dentatorubral-Pallidoluysian Atrophy, a rare genetic disorder caused by mutations in the ATN1 gene, leading to progressive neurological symptoms.
What does the DRPLA Gene Analysis Test detect?
The test detects CAG repeat expansions in the ATN1 gene, which are pathogenic for DRPLA, using PCR fragment analysis.
How much does the DRPLA test cost in India?
The test costs INR 7500 at DNA Labs India, with free home sample collection available across many cities.
What sample is required for the test?
A blood sample of 4 mL (2 mL minimum) collected in a Lavender Top (EDTA) tube is required.
Is fasting needed before the test?
No, fasting is not required. However, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
How long does it take to get results?
Results are typically available within 4-5 business days after sample collection, with reports delivered online or via email/WhatsApp.
What are the symptoms of DRPLA?
Symptoms include uncontrolled movements, tremors, difficulty walking or balancing, speech and swallowing problems, and mental health issues like depression and anxiety.
Who should consider this test?
Individuals with neurological symptoms suggestive of DRPLA, a family history of the disorder, or those seeking genetic counseling for planning purposes.
What does a positive result mean?
A positive result confirms the presence of pathogenic CAG repeats in the ATN1 gene, indicating a diagnosis of DRPLA. Genetic counseling is recommended.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India, including Mumbai, Delhi, Bangalore, and more.
What is the turnaround time for the test?
The turnaround time is 4-5 business days from sample collection to report delivery.
Are there any risks associated with the test?
The test involves a routine blood draw with minimal risks such as bruising or infection. Emotional impact may occur, so genetic counseling is advised.
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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