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ITM2B Gene Dementia, familial, British type NGS Genetic Test

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ITM2B Gene Dementia, familial, British type NGS Genetic Test

Short Name: ITM2B NGS Test

Also known as: Familial British Dementia Genetic Test, ITM2B Gene Mutation Analysis, Dementia, familial British type NGS Panel

ITM2B Gene Dementia, familial, British type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are generally available within 3 to 4 weeks from the date of sample receipt. The report will include the NGS analysis, interpretation, and raw data files (FASTQ and VCF).. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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

To confirm the clinical diagnosis of familial British dementia and identify the underlying genetic cause by detecting mutations in the ITM2B gene using next-generation sequencing technology.

Test Code
3994
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are generally available within 3 to 4 weeks from the date of sample receipt. The report will include the NGS analysis, interpretation, and raw data files (FASTQ and VCF).
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to discuss the implications of the test and draw a family pedigree.

Method: Venipuncture or blood spot on FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If using FTA card, a few drops of blood are placed on the card and dried.

Step 3

Report Delivery

No special precautions are needed after sample collection. The sample will be transported to the laboratory for NGS analysis.

Timeline: Results are generally available within 3 to 4 weeks from the date of sample receipt. The report will include the NGS analysis, interpretation, and raw data files (FASTQ and VCF).

Patient Instructions

1
Before the Test:The patient should schedule an appointment with a genetic counsellor or neurologist. No special preparation such as fasting is needed. It is important to bring any prior medical records, imaging findings, and family history details.
2
During the Test:The test involves a simple blood draw or a finger-prick blood spot on an FTA card. The procedure is quick and generally painless. For DNA extraction, a small sample is sufficient for NGS analysis.
3
After the Test:After the test, the patient may resume normal activities immediately. The laboratory will process the sample and results are expected within 3-4 weeks. The patient will receive an online report and will be contacted for genetic counselling if requested.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of familial British dementia and identify the underlying genetic cause by detecting mutations in the ITM2B gene using next-generation sequencing technology.

How to Prepare

  • Please carry a valid ID for verification
  • If you have had a blood transfusion in the past 2 weeks, please inform the collection team
  • For home collection, keep the FTA card or collection tube readily accessible
  • The sample can be collected at rest; no fasting is required

Doctor's Notes

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

"Early genetic diagnosis of familial British dementia can significantly aid in family planning and proactive medical management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per lab protocol (typically 2-3 ml blood or equivalent DNA)
ContainerEDTA tube / FTA Card
Collection MethodVenipuncture or blood spot on FTA Card

Sample Stability

Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Improperly labelled sample
  • FTA card not dried properly (wet or contaminated)

Understanding Your Results

The interpretation of this NGS genetic test focuses on the presence or absence of pathogenic variants in the ITM2B gene. Results are reported with a clear clinical statement.
📊

No pathogenic variant detected (Negative)

No mutation in the ITM2B gene was identified. This significantly reduces the likelihood of familial British dementia, but other genetic or sporadic causes should be considered if clinical suspicion remains.

📊

Pathogenic variant detected (Positive)

A pathogenic mutation in the ITM2B gene was identified. This confirms the genetic diagnosis of familial British dementia and enables risk assessment for at-risk family members.

📊

Variants of uncertain significance (VUS)

A DNA sequence change was found whose impact is not yet known. Further family segregation analysis and clinical correlation are required to determine its significance.

⚠️ When to Consult a Doctor:

You should consult a neurologist or geneticist if you or a family member experience early-onset dementia symptoms, have a known family history of familial British dementia, or have received a positive genetic test result requiring medical interpretation and management.

Limitations

  • ⚠This test detects only pathogenic variants in the ITM2B gene and does not rule out other genetic or non-genetic causes of dementia
  • ⚠NGS technology may not detect all types of mutations such as large genomic rearrangements without additional analysis
  • ⚠Variants of uncertain significance may be reported and require further family studies
  • ⚠Results should be interpreted in the context of clinical symptoms and family history

Risks & Considerations

  • ●No significant physical risks are associated with a routine blood collection except minor bruising or bleeding
  • ●Potential psychological impact of receiving an unexpected genetic result
  • ●Reproductive and family planning implications
  • ●Possibility of variants of uncertain significance causing anxiety

Interfering Factors

  • ●Inadequate sample quantity or poor DNA quality
  • ●Contamination of sample during collection or handling
  • ●Recent allogeneic blood transfusion can affect DNA analysis
  • ●Presence of maternal cell contamination in certain sample types

Compare With Similar Tests

TestITM2B Gene Dementia, familial, British type NGS Genetic TestITM2B Gene NGS TestFrontotemporal Dementia Gene PanelAlzheimer's Disease Risk PanelWhole Exome Sequencing (Dementia focused)
ComparisonITM2B Gene Dementia, familial, British type NGS Genetic Test

Frequently Asked Questions

What is the cost of the ITM2B gene dementia test at DNA Labs India?
The total cost of the ITM2B Gene Dementia, familial, British type NGS Genetic Test is INR 20,000. This includes free home sample collection, NGS analysis, clinical report, and raw data files (FASTQ and VCF).
How is the ITM2B gene test performed?
The test is performed using Next Generation Sequencing (NGS) technology on a blood sample or extracted DNA. A simple blood draw or a dried blood spot on an FTA card is sufficient for analysis.
What is the turnaround time for this genetic test?
The test results are typically available within 3 to 4 weeks from the day the sample reaches the laboratory. You will receive an online report and your medical history will be reviewed by the reporting team.
Is fasting required before the ITM2B gene test?
No, fasting is not required for this genetic test. You can eat and drink normally before giving your blood sample.
Can the blood sample be collected at home?
Yes, DNA Labs India offers free home sample collection for this test across more than 200 cities in India. The phlebotomist will visit you at your convenience.
What does a positive test result mean?
A positive test result indicates that a pathogenic mutation in the ITM2B gene has been detected. This confirms the genetic diagnosis of familial British dementia and has implications for other family members who may be at risk.
What does a negative test result mean?
A negative result means no pathogenic variant was found in the ITM2B gene. This reduces the likelihood of familial British dementia caused by ITM2B mutations, but does not exclude other forms of dementia or genetic causes.
Is the ITM2B gene test covered by insurance?
This test is not generally covered by government health insurance schemes like PMJAY, CGHS, ECHS, or ESIC. However, some private insurance policies may provide coverage depending on the plan and medical necessity. Please check with your insurer.
Do I need genetic counselling before this test?
Yes, pre-test genetic counselling is strongly recommended. DNA Labs India provides a genetic counselling session to help you understand the implications, draw a family pedigree, and make an informed decision.
Are raw data files provided with the test report?
Yes, DNA Labs India is one of the few laboratories that provides the raw data files including FASTQ and VCF along with the conclusive clinical test report. This ensures transparency and allows for secondary analysis if needed.
Which types of samples can be submitted for the ITM2B gene test?
The test accepts blood (EDTA), extracted DNA, or one drop of blood on an FTA card. The sample should be collected using the provided collection kit and handled according to instructions.
How accurate is NGS technology for detecting ITM2B gene mutations?
NGS is a highly accurate and reliable technology for detecting point mutations, small insertions/deletions, and small duplications. The sensitivity and specificity for ITM2B gene variants are >99%. However, some large rearrangements may require complementary testing methods.
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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