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ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic Test

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ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic Test

Short Name: ATN1 DRPLA NGS Test

Also known as: ATN1 gene mutation analysis, DRPLA genetic test, ATN1 NGS genetic test, Dentatorubral-pallidoluysian atrophy NGS test

ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually available 3 to 4 weeks after the sample reaches the laboratory. The report will be delivered through the online portal, email, or WhatsApp as requested.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic variants and CAG repeat expansions in the ATN1 gene that are associated with dentatorubral-pallidoluysian atrophy. It is intended as an aid in diagnosis, predictive testing, and genetic counselling for individuals with clinical features or a family history of DRPLA.

Test Code
4008
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available 3 to 4 weeks after the sample reaches the laboratory. The report will be delivered through the online portal, email, or WhatsApp as requested.
Fasting Required
No
Method
Next-Generation Sequencing (NGS) Technology
Step 1

Sample Collection

No fasting is required. The patient should bring previous neurological evaluation reports, if available. A genetic counselling session is advised before testing to document clinical history and build a pedigree chart of family members affected with DRPLA.

Method: Venipuncture / dried blood spot / pre-extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood from a vein in a sterile EDTA tube. If an FTA card is used, one drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

No special precautions are needed. The patient can resume normal activities immediately after sample collection. The collected sample should be sent to the laboratory within the recommended transport time.

Timeline: Reports are usually available 3 to 4 weeks after the sample reaches the laboratory. The report will be delivered through the online portal, email, or WhatsApp as requested.

Patient Instructions

1
Before the Test:No fasting is needed. A genetic counselling session is recommended before the test to explain the procedure, inheritance pattern, and possible implications of positive and negative results.
2
During the Test:A blood sample is collected by venipuncture, or a dried blood spot is prepared on an FTA card. The process is quick and generally painless.
3
After the Test:There are no activity restrictions after sample collection. The laboratory will process the sample and provide the report in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants and CAG repeat expansions in the ATN1 gene that are associated with dentatorubral-pallidoluysian atrophy. It is intended as an aid in diagnosis, predictive testing, and genetic counselling for individuals with clinical features or a family history of DRPLA.

How to Prepare

  • No fasting is required before sample collection.
  • Complete the test request form and consent documents accurately.
  • A genetic counselling session is recommended before testing.
  • Carry any previous genetic or neurological reports, if available.
  • For home collection, keep the confirmed appointment and follow the collection kit instructions.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"A confirmed molecular diagnosis in DRPLA helps guide management and enables family screening and reproductive planning. Genetic counselling should always accompany ATN1 genetic testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA tube / FTA card / DNA storage tube
Collection MethodVenipuncture / dried blood spot / pre-extracted DNA submission

Sample Stability

Whole blood in EDTA: stable for 24-48 hours at room temperature.
Extracted DNA: stable for months when stored at -20°C.
FTA card: stable at room temperature for several weeks.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample.
  • Improperly labeled sample.
  • Insufficient blood volume or DNA quantity.
  • FTA card that is wet, contaminated, or improperly stored.
  • Missing clinical history or consent forms.

Understanding Your Results

Interpretation should be performed by a clinical geneticist or neurologist in the context of clinical features, family history, and variant classification. The laboratory report will describe whether a pathogenic ATN1 variant or CAG repeat expansion was detected.
Normal: 6-35 CAG repeats suggests no molecular evidence of DRPLA.
Intermediate: 36-48 CAG repeats is considered uncertain; family studies and predictive testing may be advised.
Pathogenic: 49 or more CAG repeats is consistent with dentatorubral-pallidoluysian atrophy.
A positive predictive result in an asymptomatic individual requires genetic counselling and individualized medical planning.
⚠️ When to Consult a Doctor:

Consult a doctor if you or a family member have unexplained seizures, progressive ataxia, cognitive decline, or abnormal movements. Genetic testing for DRPLA should be done only after clinical assessment and genetic counselling.

Limitations

  • ⚠NGS may not accurately size very large CAG repeat expansions; additional repeat-primed PCR or fragment analysis may be required.
  • ⚠This test does not exclude all genetic and acquired causes of neurological symptoms.
  • ⚠A negative result does not rule out DRPLA if clinical suspicion is high; further testing may be needed.
  • ⚠Predictive testing should only be performed after formal genetic counselling and informed consent.

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site.
  • ●Dizziness or fainting during blood collection, though rare.
  • ●Psychological stress associated with predictive genetic testing results.

Interfering Factors

  • ●Poor quality or degraded DNA
  • ●Sample contamination during FTA card collection
  • ●Mislabeling or sample mix-up
  • ●Very large CAG repeat expansions may be difficult to amplify and size by NGS alone

Compare With Similar Tests

TestATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic TestATN1 Gene DRPLA NGS Genetic TestSpinocerebellar Ataxia NGS PanelHuntington Disease Genetic Test
ComparisonATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic Test

Frequently Asked Questions

What is the ATN1 gene DRPLA NGS genetic test?
It is a next-generation sequencing test for the ATN1 gene. It helps detect mutations associated with dentatorubral-pallidoluysian atrophy (DRPLA), a rare inherited neurological disorder.
What does DRPLA stand for?
DRPLA stands for dentatorubral-pallidoluysian atrophy. It is a progressive disorder of the nervous system caused by pathogenic changes in the ATN1 gene.
What is the cost of the ATN1 gene DRPLA NGS genetic test at DNA Labs India?
The test costs Rs 20000.0. Free home sample collection is available for online bookings across many cities in India.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted. The laboratory will guide the patient about the preferred sample type.
Is fasting required before the test?
No. Fasting is not required for this NGS genetic test. You can eat and drink normally before sample collection.
How long will the results take?
Reports are usually available in 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes. DNA Labs India offers free home sample collection for online bookings of this test in major cities and towns across India.
Who should get this test done?
Patients with clinical features of DRPLA, individuals with a family history of the condition, and people whose doctor has recommended genetic testing for hereditary ataxia or movement disorders.
Is DRPLA inherited?
Yes. DRPLA is inherited in an autosomal dominant pattern, so a child of an affected parent has a 50% chance of inheriting the altered ATN1 gene.
Can the test be used for predictive testing in at-risk family members?
Yes, predictive testing is possible only after formal genetic counselling, informed consent, and when the familial mutation has been identified.
Does a negative result mean the person does not have a neurological disorder?
No. A negative ATN1 test does not exclude other genetic or acquired neurological disorders. The result should be interpreted by a neurologist or clinical geneticist.
What is the role of genetic counselling in this test?
Genetic counselling is essential before and after testing. It helps document family history, build a pedigree chart, explain the inheritance pattern, and discuss the medical and emotional implications of the result.
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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