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TOR1A Gene DYT1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TOR1A Gene DYT1 NGS Genetic Test

Short Name: DYT1 NGS Test

Also known as: TOR1A Gene Mutation Test, DYT1 Dystonia Genetic Test, Early-Onset Dystonia NGS Panel, TorsinA Gene Sequencing Test, TOR1A NGS Sequencing Test

TOR1A Gene DYT1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at laboratory. Free home collection in 300+ cities across India.

GeneticAll 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 primary purpose of the TOR1A Gene DYT1 NGS Genetic Test is to confirm or rule out a genetic diagnosis of DYT1 dystonia by detecting pathogenic mutations in the TOR1A gene. This test is essential for establishing a definitive molecular diagnosis in patients presenting with early-onset dystonia, enabling accurate genetic counselling for affected families, determining carrier status in asymptomatic family members, guiding treatment decisions, and facilitating informed family planning. The test also helps differentiate DYT1 dystonia from other forms of dystonia and neurological conditions with overlapping symptoms, ensuring appropriate clinical management.

Test Code
1589
CPT Code
81405
ICD Code
G24.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt at laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation
Step 1

Sample Collection

No special preparation or fasting is required. A genetic counselling session is recommended before sample collection to discuss the implications of testing, obtain informed consent, and draw a pedigree chart of family members affected with DYT1 dystonia or related movement disorders.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, a single drop of blood on an FTA card or previously extracted DNA may be submitted. The procedure takes approximately 5-10 minutes.

Step 3

Report Delivery

Apply gentle pressure on the puncture site with a cotton ball for 3-5 minutes. The sample is transported to the laboratory under controlled ambient temperature. Results are typically available within 3 to 4 weeks.

Timeline: 3 to 4 Weeks from sample receipt at laboratory

Patient Instructions

1
Before the Test:Schedule a genetic counselling session to discuss the purpose of the test, its implications, and to complete a family pedigree chart. No fasting is required. Inform your doctor about all medications, recent transfusions, and any previous genetic test results.
2
During the Test:A simple blood draw (3-5 mL) from a vein in your arm will be performed by a trained phlebotomist. The procedure typically takes 5-10 minutes and is associated with minimal discomfort. Alternatively, a blood drop on an FTA card may be used.
3
After the Test:Apply pressure on the puncture site for a few minutes. You can resume normal activities immediately. The sample will be processed using NGS technology, and results will be available within 3 to 4 weeks through your preferred delivery method (online portal, email, or WhatsApp).

About This Test

Who Should Get This Test

The primary purpose of the TOR1A Gene DYT1 NGS Genetic Test is to confirm or rule out a genetic diagnosis of DYT1 dystonia by detecting pathogenic mutations in the TOR1A gene. This test is essential for establishing a definitive molecular diagnosis in patients presenting with early-onset dystonia, enabling accurate genetic counselling for affected families, determining carrier status in asymptomatic family members, guiding treatment decisions, and facilitating informed family planning. The test also helps differentiate DYT1 dystonia from other forms of dystonia and neurological conditions with overlapping symptoms, ensuring appropriate clinical management.

How to Prepare

  • No fasting is required prior to sample collection
  • Bring a valid government-issued photo ID and the test requisition form
  • Inform the phlebotomist about any recent blood transfusions or bone marrow transplants
  • Provide complete clinical history and family pedigree information during the pre-test counselling session
  • For FTA card collection, ensure the blood drop is applied correctly and allowed to dry completely before packaging
  • Maintain the sample at ambient room temperature during transport

Doctor's Notes

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

"DYT1 dystonia is the most common inherited early-onset torsion dystonia. Genetic confirmation through TOR1A gene testing is essential for accurate diagnosis, appropriate treatment planning, and genetic counselling for affected families. Early identification allows timely intervention and family planning guidance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample Volume3-5 mL Whole Blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture

Sample Stability

Whole Blood in EDTA tube: Stable for 72 hours at 2-8°C
Extracted DNA: Stable for 6 months at -20°C
FTA Card: Stable for several years at room temperature when stored properly
Sample Rejection Criteria:
  • Clotted blood sample in EDTA tube
  • Insufficient sample volume (less than 2 mL)
  • Leaking or damaged sample container
  • Sample received without proper labeling or requisition form
  • Heparinized blood samples
  • Severely hemolyzed or contaminated samples

Understanding Your Results

The results of the TOR1A Gene DYT1 NGS Genetic Test should be interpreted by a qualified clinical geneticist or neurologist in the context of the patient's clinical presentation, family history, and other diagnostic findings. A positive result confirms the genetic basis of DYT1 dystonia, while a negative result does not entirely exclude the disorder, as other genetic causes of dystonia exist.
📊

Pathogenic Variant Detected

A known disease-causing mutation in the TOR1A gene has been identified. This confirms a molecular diagnosis of DYT1 dystonia. Genetic counselling is strongly recommended for the patient and at-risk family members. Not all carriers will develop symptoms due to reduced penetrance (~30-40%).

📊

Likely Pathogenic Variant Detected

A variant with strong evidence of pathogenicity has been found. Clinical correlation and family segregation studies are recommended. Genetic counselling should be provided to discuss implications and management options.

📊

Variant of Uncertain Significance (VUS)

A genetic variant has been identified, but current evidence is insufficient to determine whether it is disease-causing or benign. This result should not be used for clinical decision-making. Family segregation analysis and periodic re-evaluation are recommended as new evidence becomes available.

📊

No Pathogenic Variant Detected

No disease-causing mutations were identified in the TOR1A gene. This result does not completely exclude DYT1 dystonia, as large deletions, duplications, or mutations in other dystonia-associated genes may be responsible. Additional genetic testing or clinical evaluation may be warranted.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or your child experience involuntary muscle contractions, abnormal postures, limb stiffness, tremors, or difficulty with walking and fine motor tasks that begin in childhood or adolescence. If there is a known family history of DYT1 dystonia or other movement disorders, seek genetic counselling before testing. After receiving test results, a follow-up consultation is essential to discuss the implications, management options, and family planning considerations.

Limitations

  • ⚠This test does not detect large genomic rearrangements or copy number variations in the TOR1A gene
  • ⚠Deep intronic mutations outside the targeted regions may not be identified
  • ⚠A negative result does not completely exclude dystonia, as other genes may be responsible
  • ⚠Variants of Uncertain Significance (VUS) may be identified and cannot be used for definitive clinical decision-making without further evidence
  • ⚠Results should always be interpreted in conjunction with clinical findings and family history by a qualified geneticist or neurologist

Risks & Considerations

  • ●Minimal risk associated with blood draw: minor bruising, slight pain at puncture site, or very rare infection
  • ●Psychological impact of genetic results: potential anxiety or stress related to positive findings or uncertain results
  • ●Implications for family members: a positive result in one individual may have genetic implications for siblings, parents, and children
  • ●Insurance and discrimination concerns: discuss genetic data privacy with your counsellor before testing

Interfering Factors

  • ●Degraded or insufficient DNA quality may affect sequencing results
  • ●Recent blood transfusions within the past 4 weeks may affect DNA analysis
  • ●Sample contamination during collection or transport
  • ●Heparin-treated blood samples may interfere with NGS library preparation
  • ●Improper storage temperature during sample transport may degrade DNA

Compare With Similar Tests

TestTOR1A Gene DYT1 NGS Genetic TestSanger Sequencing for TOR1ADystonia Gene Panel (Multi-Gene)Whole Exome Sequencing (WES)MRI Brain
ComparisonTOR1A Gene DYT1 NGS Genetic Test

Frequently Asked Questions

What is the TOR1A Gene DYT1 NGS Genetic Test?
The TOR1A Gene DYT1 NGS Genetic Test is a molecular diagnostic test that uses Next-Generation Sequencing (NGS) technology to identify mutations in the TOR1A gene. This gene is associated with DYT1 dystonia, a hereditary movement disorder that causes involuntary muscle contractions and abnormal postures, typically beginning in childhood or adolescence.
Who should get the TOR1A Gene DYT1 NGS Genetic Test?
This test is recommended for individuals with early-onset dystonia symptoms (usually before age 26), those with a family history of DYT1 dystonia or generalized torsion dystonia, patients with unexplained involuntary muscle contractions or abnormal postures, and family members of known TOR1A mutation carriers who wish to determine their carrier status.
How much does the TOR1A Gene DYT1 NGS Genetic Test cost in India?
The cost of the TOR1A Gene DYT1 NGS Genetic Test at DNA Labs India is INR ?20,000. This price includes sample collection (free home collection available), NGS sequencing, bioinformatics analysis, clinical report, and Raw Data, FASTQ, and VCF files.
What sample is required for the TOR1A Gene DYT1 NGS Genetic Test?
The test requires a blood sample (3-5 mL collected in an EDTA vacutainer), extracted DNA, or a single drop of blood on an FTA card. No fasting is required before sample collection.
How long does it take to get the results of the TOR1A Gene DYT1 NGS Genetic Test?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports can be accessed through the online portal, email, or WhatsApp.
What does a positive TOR1A Gene DYT1 NGS Genetic Test result mean?
A positive result means a pathogenic mutation in the TOR1A gene has been detected, confirming a molecular diagnosis of DYT1 dystonia. However, due to reduced penetrance (approximately 30-40%), not all individuals with a TOR1A mutation will develop clinical symptoms. Genetic counselling is strongly recommended to discuss implications for the patient and family members.
What is DYT1 dystonia and how does it affect the body?
DYT1 dystonia is a hereditary movement disorder caused by mutations in the TOR1A gene. It typically begins in childhood or adolescence with focal symptoms such as involuntary muscle contractions in a limb, which may progressively spread to other body regions. Common symptoms include tremors, difficulty walking or standing, abnormal posture, and problems with speaking or swallowing. It follows an autosomal dominant inheritance pattern with reduced penetrance.
Is the TOR1A Gene DYT1 NGS Genetic Test accurate?
Yes, the test uses Next-Generation Sequencing (NGS) technology, which provides highly accurate and comprehensive analysis of the entire TOR1A gene. The test achieves greater than 99% analytical sensitivity and specificity for detected variants. However, no genetic test can detect all possible mutations, and results should always be interpreted in clinical context.
Does DNA Labs India provide raw genetic data files?
Yes, DNA Labs India is transparent and provides Raw Data, FASTQ, and VCF files along with the conclusive clinical test report. These files allow for independent verification, reanalysis, or future interpretation as new research becomes available.
Is home sample collection available for this genetic test?
Yes, DNA Labs India offers free home sample collection for online bookings of the TOR1A Gene DYT1 NGS Genetic Test across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. The test is available at a special discounted price of ?20,000 across India.
What is the difference between the TOR1A Gene DYT1 NGS Test and a Dystonia Gene Panel?
The TOR1A Gene DYT1 NGS Test specifically targets the TOR1A gene and is most appropriate when DYT1 dystonia is the primary clinical suspicion. A Dystonia Gene Panel tests multiple genes associated with various forms of dystonia simultaneously, which is useful when the specific genetic cause is unknown or when differential diagnosis is needed.
Do I need genetic counselling before and after the TOR1A Gene DYT1 NGS Genetic Test?
Yes, genetic counselling is strongly recommended before and after the test. Pre-test counselling helps you understand the purpose, implications, and potential outcomes of the test, and includes drawing a family pedigree. Post-test counselling helps interpret results, discusses implications for family members, and guides further management and family planning decisions.
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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