Skip to main content
DNA Labs India

ITM2B Gene Dementia, familial, Danish type NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ITM2B Gene Dementia, familial, Danish type NGS Genetic Test

Short Name: ITM2B FDD NGS Test

Also known as: Familial Danish Dementia Genetic Test, ITM2B Gene Mutation Analysis, BRI2 Gene Sequencing, Familial Danish Dementia NGS Test

ITM2B Gene Dementia, familial, Danish type 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 Reports are generally delivered within 3 to 4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to confirm or exclude a pathogenic mutation in the ITM2B gene in individuals with clinical features of familial Danish dementia or a strong family history of early-onset dementia.

Test Code
4000
Price
₹20,000
Sample Type
Blood or Extracted DNA or one drop Blood on FTA Card
Result Time
Reports are generally delivered within 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to document family history and draw a pedigree chart. Please carry any previous neurological examination reports, imaging, and family history records for correlation.

Method: Blood collection by phlebotomist / FTA card blood spot / submitted DNA

Step 2

Laboratory Analysis

A small blood sample is collected into a labeled tube, or one drop of blood is placed on an FTA card, or an extracted DNA sample is submitted as per laboratory instructions. Proper identification and signed consent are required.

Step 3

Report Delivery

No restrictions on daily activities are needed after sample collection. The sample is transported to the laboratory at ambient temperature for DNA extraction and NGS analysis.

Timeline: Reports are generally delivered within 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is needed for this genetic test. A genetic counseling session is advised for individuals who have symptoms or a family history of familial Danish dementia.
2
During the Test:The NGS genetic test is performed on a blood, FTA card, or extracted DNA sample. The laboratory will extract DNA, enrich the ITM2B gene target, and perform next-generation sequencing.
3
After the Test:The sample is processed in the laboratory and results are typically available within 3 to 4 weeks. The report will include the clinical interpretation and, when applicable, raw data files such as FASTQ and VCF.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to confirm or exclude a pathogenic mutation in the ITM2B gene in individuals with clinical features of familial Danish dementia or a strong family history of early-onset dementia.

How to Prepare

  • Bring a valid government photo ID for sample registration
  • Inform the lab about any known family history of dementia
  • No fasting required; tests can be done at any time of day
  • For FTA card, apply one drop of blood as per instructions
  • For extracted DNA, ensure the sample is labeled with patient name and unique ID

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for ITM2B should always be accompanied by pre- and post-test genetic counseling. For families with reproductive concerns, a detailed pedigree and appropriate follow-up are essential before tests are ordered."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or one drop Blood on FTA Card
Sample VolumeAs required by laboratory
ContainerBlood collection tube, sterile DNA vial, or FTA card
Collection MethodBlood collection by phlebotomist / FTA card blood spot / submitted DNA

Sample Stability

Blood/FTA card samples should be transported to the laboratory as per DNA Labs India collection kit instructions
Avoid exposure to extreme heat, direct sunlight, or humidity
For best DNA quality, samples should reach the laboratory within the time instructed by the lab
Sample Rejection Criteria:
  • Unlabelled or misidentified sample
  • Insufficient blood or inadequate FTA blood spot
  • Degraded or contaminated DNA sample
  • Missing patient identification or signed consent form
  • Sample with wrong collection tube or inappropriate transport conditions

Understanding Your Results

This NGS-based test analyses the ITM2B gene to identify pathogenic variants associated with familial Danish dementia. Results must be interpreted in the context of clinical symptoms, neurological examination, and family history.
Positive result: A pathogenic or likely pathogenic variant in the ITM2B gene supports a diagnosis of familial Danish dementia or indicates high genetic risk in a presymptomatic family member.
Negative result: No pathogenic ITM2B variant was identified. This does not exclude familial Danish dementia caused by other genetic mechanisms or other causes of dementia.
Variant of uncertain significance: The clinical significance is unclear. Additional family segregation studies and genetic counseling are recommended.
⚠️ When to Consult a Doctor:

After receiving the report, consult with the referring doctor or a clinical geneticist, especially if a pathogenic variant is detected. Genetic counseling is strongly recommended for family planning and for at-risk relatives.

Limitations

  • ⚠This targeted NGS test evaluates only the ITM2B gene and does not rule out dementia caused by other genes or non-genetic causes.
  • ⚠Large gene rearrangements, deep intronic mutations, or regulatory region variants may not be detected by this NGS approach.
  • ⚠Variant interpretation may be limited by incomplete family history and population-specific databases.
  • ⚠A negative result must be interpreted along with clinical findings, neurological evaluation, and family history.

Risks & Considerations

  • ●Minor bruising or bleeding at the blood collection site
  • ●Dizziness or discomfort during blood draw
  • ●Psychological impact of receiving genetic information

Interfering Factors

  • ●Low DNA yield or degraded DNA due to improper storage or transport
  • ●Contamination of the sample during collection or handling
  • ●PCR or sequencing artifacts
  • ●Variants of uncertain significance that may require further family studies
  • ●Incomplete family history or clinical information limiting interpretation

Compare With Similar Tests

TestITM2B Gene Dementia, familial, Danish type NGS Genetic Test
ComparisonITM2B Gene Dementia, familial, Danish type NGS Genetic Test

Frequently Asked Questions

What is ITM2B gene dementia?
ITM2B gene dementia, also called familial Danish type dementia, is a rare inherited brain disorder caused by mutations in the ITM2B gene that encodes the BRI2 protein. It leads to progressive dementia and neurological symptoms.
What does the ITM2B NGS genetic test detect?
It detects mutations in the ITM2B gene using next-generation sequencing technology on blood, extracted DNA, or FTA-card blood spot samples.
What are the early symptoms of familial Danish dementia?
Early symptoms may include memory loss, language difficulty, and changes in personality. As the disease progresses, movement problems, visual changes, stiffness, tremor, and difficulty walking may appear.
Who should take this test?
People with unexplained early-onset dementia, a family history of familial Danish dementia, or neurological features compatible with inherited dementia should consider this test after medical evaluation.
How is the test done?
A blood sample, FTA blood spot, or extracted DNA sample is collected. DNA is then extracted and the ITM2B gene is analyzed using NGS technology.
Does the test require fasting?
No, fasting is not required for this test. The sample can be provided at ambient room temperature.
How long does it take to get reports?
Reports are generally available within 3 to 4 weeks after the sample is received by the laboratory.
What is the cost of the test?
The test costs Rs 20,000, which includes home sample collection in many locations across India.
What sample types can be submitted?
Blood, extracted DNA, or one drop of blood on an FTA card can be submitted for this NGS genetic test.
Does DNA Labs India provide raw data?
Yes, DNA Labs India provides raw data files such as FASTQ and VCF along with the clinical report for transparency.
What does a negative test result mean?
A negative result means no pathogenic variant was identified in the ITM2B gene. However, it does not exclude all causes of dementia, and clinical evaluation remains important.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic or likely pathogenic ITM2B variant and supports the diagnosis or familial risk. Genetic counseling is strongly recommended.
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.

Related Tests

Huntington Disease Mutation Detection Test

₹8,000

Myotonic Dystrophy Type 1 Test

₹8,500

Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test

₹23,400

Nx Gen Sequencing: Tuberous Sclerosis Complex Test

₹27,495

MED25 Gene CMT2B2 NGS Genetic Test

₹20,000

FLNA Gene Intestinal pseudoobstraction, neuronal NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.