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THAP1 Gene DYT6 NGS Genetic Test

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THAP1 Gene DYT6 NGS Genetic Test

Short Name: THAP1 Gene DYT6 NGS Test

Also known as: DYT6 Dystonia Genetic Test, THAP1 Gene Mutation Analysis, THAP1-Associated Dystonia NGS Test

THAP1 Gene DYT6 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 will be available in 3 to 4 weeks from sample receipt. You will be notified by SMS/email with a link to download the clinical report and raw data files.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 THAP1 Gene DYT6 NGS Genetic Test is to confirm or exclude DYT6 dystonia by identifying pathogenic variants in the THAP1 gene. It supports early diagnosis, helps guide treatment decisions, and enables genetic counselling for at-risk family members.

Test Code
4023
ICD Code
G24.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results will be available in 3 to 4 weeks from sample receipt. You will be notified by SMS/email with a link to download the clinical report and raw data files.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is required prior to testing. During the counseling session, a family pedigree is drawn and the clinical history of affected family members is recorded. No fasting is necessary.

Method: Peripheral blood draw or FTA blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample in an EDTA vacutainer. For FTA card collection, a few drops of blood are placed on the FTA card and allowed to air-dry.

Step 3

Report Delivery

The sample should be transported to the laboratory according to recommended storage conditions. No lifestyle restrictions are required after sample collection.

Timeline: Results will be available in 3 to 4 weeks from sample receipt. You will be notified by SMS/email with a link to download the clinical report and raw data files.

Patient Instructions

1
Before the Test:Before the genetic test, a medical consultation with a neurologist is recommended. A genetic counselor will collect family history and explain the benefits, limitations, and possible results of the test. You will be asked to sign a consent form.
2
During the Test:A small blood sample is drawn from a vein in the arm. The procedure is quick and usually takes less than 10 minutes. A finger-prick blood spot on an FTA card may also be collected.
3
After the Test:After sample collection, the sample is sent to the DNA lab for processing. You can follow your normal routine. Your clinician will explain the results once the report is ready.

About This Test

Who Should Get This Test

The purpose of the THAP1 Gene DYT6 NGS Genetic Test is to confirm or exclude DYT6 dystonia by identifying pathogenic variants in the THAP1 gene. It supports early diagnosis, helps guide treatment decisions, and enables genetic counselling for at-risk family members.

How to Prepare

  • Confirm patient identity and label the sample tube or FTA card with patient name and unique ID.
  • Use an EDTA tube for whole blood collection.
  • For FTA card, place one blood drop in the designated circle and air-dry completely.
  • Transport whole blood at room temperature or 2-8°C if delayed.
  • For extracted DNA, store in DNA-stable buffer and ship on cold pack.

Doctor's Notes

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

"In my neurology practice, genetic testing for DYT6 is helpful when a patient presents with early-onset cranio-cervical or upper-limb dystonia without a secondary cause. A confirmed THAP1 mutation supports management decisions and allows at-risk family members to make informed choices."

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 DNA isolation
ContainerEDTA tube / FTA card / DNA vial
Collection MethodPeripheral blood draw or FTA blood spot

Sample Stability

7 days
Several weeks
Up to 6 months
Sample Rejection Criteria:
  • Sample tube without proper patient identification.
  • Clotted or hemolyzed blood sample.
  • Incorrect anticoagulant such as heparinized tube.
  • Insufficient sample volume.
  • Sample sent in formalin or fixative.

Understanding Your Results

The final report includes a clinical interpretation by a senior geneticist. Variants are classified according to ACMG/AMP guidelines. It is essential to review the report with a neurologist or genetic counselor.
Positive: Detection of a pathogenic or likely pathogenic variant in THAP1 confirms the clinical diagnosis of DYT6 dystonia.
Negative: No pathogenic variant was detected in THAP1; other genetic and acquired causes of dystonia should be considered.
Variant of Uncertain Significance (VUS): The clinical significance of the variant is not yet established; further family studies may be recommended.
⚠️ When to Consult a Doctor:

If you or a family member have early-onset dystonia, unexplained involuntary muscle spasms, progressive difficulty with speech or movement, or a recent diagnosis of primary dystonia, consult a neurologist or geneticist to assess the need for THAP1 genetic testing.

Limitations

  • ⚠This test specifically analyzes the THAP1 gene and does not evaluate other genes associated with dystonia.
  • ⚠NGS may not detect deep intronic variants, large structural rearrangements, or regulatory region mutations.
  • ⚠Variants of uncertain significance (VUS) may be identified; additional familial segregation studies may be required.
  • ⚠Predictive or pre-symptomatic testing must be performed only with genetic counselling and informed consent.

Risks & Considerations

  • ●Pain or bruising at the blood draw site.
  • ●Dizziness or light-headedness during blood collection.
  • ●Very low risk of infection or hematoma at the puncture site.

Interfering Factors

  • ●Lipemic, hemolyzed, or clotted blood samples.
  • ●DNA degradation caused by improper sample storage or transport.
  • ●Evidence of maternal cell contamination in certain sample types.
  • ●Recent allogeneic bone marrow transplantation or blood transfusion.
  • ●Presence of high-molecular-weight heparin or other PCR inhibitors.

Compare With Similar Tests

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Frequently Asked Questions

What is THAP1 Gene DYT6 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the THAP1 gene for mutations associated with DYT6 dystonia, an inherited movement disorder. It helps confirm the diagnosis, guide management, and provide information for family members.
What is DYT6 dystonia?
DYT6 dystonia is a rare genetic condition caused by mutations in the THAP1 gene. It typically begins in childhood or adolescence and presents with involuntary muscle spasms, abnormal postures, and difficulty with speech or fine motor skills.
What is the cost of this genetic test in India?
The test costs approximately Rs 20,000 at DNA Labs India. The price includes home sample collection, clinical reporting, and raw data files in eligible bookings.
Which sample is required for the THAP1 gene test?
The preferred sample is blood, extracted DNA, or one drop of blood on an FTA card. DNA Labs India offers free home sample collection across many cities.
Is fasting required before the test?
No, fasting is not required. However, you should carry your clinical history and previous neurological investigation reports. Genetic counseling is done before sample collection.
How long will the reports take?
Reports are provided within 3 to 4 weeks after the sample reaches the laboratory, as NGS analysis and interpretation require time.
What diseases can THAP1 gene mutations cause?
Mutations in THAP1 are primarily associated with DYT6 dystonia, which can present as cranio-cervical dystonia, limb dystonia, and task-specific dystonia such as writer's cramp.
Can this test detect all genetic causes of dystonia?
No. This test is specific to the THAP1 gene. Dystonia can be caused by many genes; a multi-gene panel or broader exome sequencing may be needed for unsolved cases.
Who should undergo this test?
It is recommended for individuals with early-onset dystonia, a family history of dystonia, or clinical features suggestive of DYT6. A neurologist or geneticist may order the test after clinical assessment.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant in THAP1 was found. This confirms the clinical diagnosis of DYT6 dystonia and helps guide treatment and family screening.
What does a negative result mean?
A negative result means no disease-causing variant was detected in the THAP1 gene. It does not rule out all genetic causes of dystonia; further evaluation may still be needed.
Does DNA Labs India provide raw data files with the report?
Yes. DNA Labs India is transparent and shares the raw data files—FASTQ and VCF—along with the conclusive clinical report, allowing for secondary analysis and expert review.
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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