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TARDBP Gene Dementia, frontotemporal NGS Genetic Test

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TARDBP Gene Dementia, frontotemporal NGS Genetic Test

Short Name: TARDBP FTD NGS Test

Also known as: TARDBP gene mutation testing, FTD genetic test, TARDBP gene sequencing, Frontotemporal dementia NGS panel

TARDBP Gene Dementia, frontotemporal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) targeting TARDBP gene on Blood / Extracted DNA / One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from the date of sample receipt. Pre-test genetic counseling and sample processing may delay the timeline. Urgent cases may be expedited upon request.. Free home collection in 300+ cities across India.

Genetic NGS 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 this NGS genetic test is to identify disease-causing mutations in the TARDBP gene, which can help confirm a diagnosis of frontotemporal dementia in symptomatic patients, guide reproductive and family planning decisions, and provide risk assessment for presymptomatic at-risk family members. The test is performed after detailed clinical evaluation and genetic counseling.

Test Code
4002
ICD Code
G31.09
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks from the date of sample receipt. Pre-test genetic counseling and sample processing may delay the timeline. Urgent cases may be expedited upon request.
Fasting Required
No
Method
Next-Generation Sequencing (NGS) targeting TARDBP gene
Step 1

Sample Collection

No special preparation such as fasting is required. Please bring a valid doctor’s referral or prescription if available. It is recommended to have a pre-test genetic counseling session, which DNA Labs India provides as part of the test package. For presymptomatic testing, written informed consent is mandatory.

Method: Peripheral blood draw / DNA extraction / FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2 ml of venous blood in an EDTA vacutainer. If an FTA card is used, a single drop of blood is applied to the card. For extracted DNA sample, it will be sent directly to the laboratory. The procedure is routine and takes only a few minutes.

Step 3

Report Delivery

There are no post-procedure restrictions. You may resume normal activities immediately. The blood sample (or FTA card) will be transported to the laboratory for NGS analysis. Results will be provided within 3 to 4 weeks.

Timeline: Reports are issued within 3 to 4 weeks from the date of sample receipt. Pre-test genetic counseling and sample processing may delay the timeline. Urgent cases may be expedited upon request.

Patient Instructions

1
Before the Test:Before undergoing the TARDBP genetic test, a genetic counseling session is provided to draw a pedigree chart and assess family history. This session explains the test procedure, possible outcomes, and implications for relatives. Patients are encouraged to ask questions and make an informed decision. For presymptomatic testing, consent is required.
2
During the Test:The NGS test is performed on a blood or DNA sample. A phlebotomist collects your sample, and the laboratory processes it using high-throughput sequencing. This is a one-time procedure with no discomfort. The sample is then analyzed in a NABL-accredited laboratory.
3
After the Test:After sample collection, you can resume normal activities. The laboratory will process the sample and release a clinical report within 3 to 4 weeks. You will receive the report via email or WhatsApp. A genetic counselor can explain the results and their implications for you and your family.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing mutations in the TARDBP gene, which can help confirm a diagnosis of frontotemporal dementia in symptomatic patients, guide reproductive and family planning decisions, and provide risk assessment for presymptomatic at-risk family members. The test is performed after detailed clinical evaluation and genetic counseling.

How to Prepare

  • No fasting or special dietary preparation is needed
  • Provide valid photo ID and prescription if available
  • Inform the phlebotomist if you have a bleeding disorder or are on anticoagulant therapy
  • Ensure the sample tube or FTA card is clearly labeled with your name and date of birth

Doctor's Notes

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

"Genetic testing for TARDBP should always be performed in the context of genetic counseling and a thorough neurological evaluation. Results carry significant implications for both the patient and at-risk family members."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop Blood on FTA Card
Sample Volume2 ml blood or 1 µg DNA or 1 FTA spot
ContainerEDTA Vacutainer or FTA Card
Collection MethodPeripheral blood draw / DNA extraction / FTA card blood spot

Sample Stability

Whole blood (EDTA)7 days
Extracted DNA12 months
FTA card blood spot6 months
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample quantity (less than 1 ml blood or <0.1 µg DNA)
  • Incorrectly labeled or unlabeled sample
  • Sample received beyond the stability window

Understanding Your Results

This NGS test examines the TARDBP gene for mutations known to cause frontotemporal dementia and ALS. Results are classified according to ACMG/AMP guidelines into five categories: Pathogenic, Likely Pathogenic, Variant of Unknown Significance, Likely Benign, and Benign. The clinical interpretation provided in the report is based on current evidence and is intended to support clinical management decisions.
📊

Pathogenic variant detected

The variant is known to cause TARDBP-associated frontotemporal dementia / ALS. This confirms a genetic diagnosis in a symptomatic patient and indicates the mutation may be present in other family members.

📊

Likely pathogenic variant detected

The variant is highly suspected to cause disease, but there is still some uncertainty. Further family studies or functional evidence may be helpful.

📊

Variant of Unknown Significance (VUS)

The variant cannot currently be classified. It does not provide a clear diagnosis. Follow-up testing, disease-specific databases, and segregation analysis may offer more information.

📊

Negative (no pathogenic variant)

No disease-causing mutation was found in TARDBP. It significantly reduces, but does not completely exclude, the chance of TARDBP-related FTD. Other genetic or non-genetic causes may be considered.

⚠️ When to Consult a Doctor:

Consult a neurologist if you or your loved one experiences memory loss, behavioral changes, language difficulties, or movement issues that interfere with daily life. If frontotemporal dementia is suspected, ask your doctor about TARDBP genetic testing. Genetic counseling before and after testing is important to understand the implications of results for your health and family planning.

Limitations

  • ⚠NGS may not detect deep intronic mutations, large deletions/duplications, copy number variations, or trinucleotide repeat expansions
  • ⚠Variants of unknown significance (VUS) may be reported; their clinical significance is uncertain
  • ⚠A negative result cannot exclude all genetic causes of frontotemporal dementia, as other genes may be involved
  • ⚠Results are intended for clinical diagnosis and risk assessment; should be interpreted in the context of family history and symptoms
  • ⚠Presymptomatic testing requires mandatory pre-test genetic counseling and informed consent

Risks & Considerations

  • ●No significant physical risks associated with blood draw except mild bruising or discomfort
  • ●Potential psychological impact of knowing genetic predisposition to a neurodegenerative disease
  • ●Family dynamics may be affected by results
  • ●Genetic testing may reveal variants of uncertain significance, which can cause anxiety

Interfering Factors

  • ●Clotted or hemolysed blood samples may cause PCR failure and impact variant detection
  • ●Low-quality or degraded DNA can lead to insufficient coverage and false-negative results
  • ●The presence of homologous pseudogenes (e.g., TARDBP pseudogenes) may complicate variant calling
  • ●Incorrect sample labeling or patient identification can invalidate the test result

Compare With Similar Tests

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ComparisonTARDBP Gene Dementia, frontotemporal NGS Genetic Test

Frequently Asked Questions

What is the TARDBP gene frontotemporal NGS genetic test?
This is a targeted next-generation sequencing assay that analyzes the TARDBP gene, which is associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). It detects mutations that cause or increase risk for these neurodegenerative disorders.
Who should consider this test?
Individuals with suspected frontotemporal dementia, especially early-onset cases, those with a family history of FTD or ALS, and at-risk relatives considering presymptomatic testing after genetic counseling.
What sample is required for the TARDBP gene test?
The sample can be 2 ml of blood in an EDTA tube, extracted DNA (minimum 1 µg), or one drop of blood spotted on an FTA card. DNA Labs India offers free home sample collection.
How much does the TARDBP gene test cost?
The cost of the TARDBP Gene Dementia, frontotemporal NGS Genetic Test at DNA Labs India is INR 20,000. This includes genetic counseling, NGS analysis, and a comprehensive clinical report.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks from the date the sample reaches the laboratory. Reports are shared via email, WhatsApp, and the online portal.
Does the test cover the entire TARDBP gene?
The NGS test covers the entire coding region and exon-intron boundaries (splice sites) of the TARDBP gene. However, large deletions/duplications, deep intronic mutations, and repeat expansions may not be detected by this test.
What does a positive result (mutation found) mean?
A pathogenic mutation in TARDBP confirms a genetic cause for frontotemporal dementia/ALS. It can guide clinical management and help determine risk for other family members. The test does not predict age of onset or severity.
What does a negative result mean?
A negative result indicates that no detectable disease-causing mutation was found in the TARDBP gene. It reduces the likelihood of TARDBP-related FTD but does not exclude other genetic or sporadic causes.
Are there any risks or limitations of NGS testing?
Genetic testing carries psychological and family implications. NGS may not detect certain types of mutations, and variants of uncertain significance may be found. Results should be interpreted by a specialist.
Is genetic counseling available before the test?
Yes, DNA Labs India provides a pre-test genetic counseling session as part of the test package. The counselor will draw a pedigree chart and explain the risks, benefits, and possible outcomes.
Does DNA Labs India provide raw data, FASTQ, and VCF files?
Yes, DNA Labs India is transparent in sharing the raw sequencing files (FASTQ, VCF) along with the conclusive clinical report. You can request these for independent bioinformatic analysis.
Can the test be done at home?
Yes, we offer free home sample collection across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, and more. A trained phlebotomist will visit your home.
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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