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TTR Gene Amyloidosis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TTR Gene Amyloidosis NGS Genetic Test

Short Name: TTR Amyloidosis NGS

Also known as: Transthyretin Gene Amyloidosis NGS, ATTR Amyloidosis Genetic Test, Hereditary ATTR Genetic Test

TTR Gene Amyloidosis 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 The clinical report and raw data files (FASTQ, VCF) are provided within 3 to 4 weeks of sample receipt at the lab.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The primary purpose of the TTR Gene Amyloidosis NGS Genetic Test is to identify disease-causing mutations in the TTR gene. This assists in confirming the diagnosis of hereditary ATTR amyloidosis, enabling early treatment, prognosis determination, and genetic counselling for at-risk family members.

Test Code
3870
ICD Code
E85.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The clinical report and raw data files (FASTQ, VCF) are provided within 3 to 4 weeks of sample receipt at the lab.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Inform your doctor about all medications and supplements you are taking. A genetic counselling session is recommended before testing to discuss implications. Bring any previous medical records and a family pedigree chart if available.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from your arm, or a blood spot on an FTA card. The procedure is routine and takes about 10 minutes.

Step 3

Report Delivery

There are no specific precautions after sample collection. You may resume normal activities immediately. The sample will be securely shipped to the laboratory for analysis.

Timeline: The clinical report and raw data files (FASTQ, VCF) are provided within 3 to 4 weeks of sample receipt at the lab.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counselling session is recommended to discuss the purpose, risks, and implications of testing. You may be asked to sign an informed consent. Bring a list of medications and any relevant family history.
2
During the Test:A blood sample will be drawn from a vein in your arm, or a blood spot will be collected on an FTA card. The procedure is quick and minimally invasive.
3
After the Test:You can leave immediately after sample collection. The laboratory will process your sample for DNA extraction and NGS analysis. Results will be communicated after 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of the TTR Gene Amyloidosis NGS Genetic Test is to identify disease-causing mutations in the TTR gene. This assists in confirming the diagnosis of hereditary ATTR amyloidosis, enabling early treatment, prognosis determination, and genetic counselling for at-risk family members.

How to Prepare

  • No fasting is required
  • Inform the lab if you have had a blood transfusion or bone marrow transplant in the last 3 months
  • Provide a clear clinical history with symptoms and age of onset
  • Complete the genetic counselling session to draw a pedigree chart

Doctor's Notes

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

"TTR gene amyloidosis can present with varied symptoms. Genetic testing is crucial for family screening and early intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 ml blood in EDTA tube or 1 FTA card spot
ContainerEDTA blood collection tube or FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Stable for 5-7 days at 2-8°C
Stable for 6 months at -20°C
Stable for 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted or underfilled specimen
  • Incorrectly labeled sample
  • Sample without appropriate clinical history or requisition form

Understanding Your Results

Interpretation of genetic test results must be performed in the context of the patient's clinical features, family history, and biochemical markers. Identification of a pathogenic TTR variant confirms the diagnosis and has direct implications for treatment and family screening.
📊

Pathogenic variant detected

Confirms the diagnosis of hereditary TTR gene amyloidosis. Predictive testing for at-risk family members is strongly recommended. Early treatment options can be discussed with a specialist.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its disease association is unclear. Additional familial testing and segregation analysis are required to clarify its clinical significance.

📊

No pathogenic variant detected

No causative mutation was identified in the TTR gene. If clinical suspicion remains high, consider alternative genetic causes or non-genetic workup.

⚠️ When to Consult a Doctor:

Consult a neurologist, cardiologist, or clinical geneticist if you experience persistent numbness, weakness, heart rhythm abnormalities, unexplained weight loss, or if you have a family history of TTR amyloidosis. Genetic testing should be performed after appropriate counselling.

Risks & Considerations

  • Minor bruising or pain at the blood draw site
  • Psychological impact from receiving genetic results
  • Discovery of unexpected or secondary findings (though not intentionally analyzed)

Interfering Factors

  • Sample contamination with maternal DNA in prenatal samples
  • Insufficient DNA quantity
  • DNA degradation due to improper storage
  • Recent bone marrow transplantation can influence results in blood-based DNA

Compare With Similar Tests

TestTTR Gene Amyloidosis NGS Genetic TestTTR Gene NGS TestTTR Gene Sanger SequencingSerum Transthyretin LevelFat Pad Biopsy
ComparisonTTR Gene Amyloidosis NGS Genetic Test

Frequently Asked Questions

What is TTR gene amyloidosis?
TTR gene amyloidosis is a rare inherited condition caused by mutations in the TTR gene, which encodes the transthyretin protein. Misfolded proteins accumulate as amyloid deposits in nerves and organs, causing progressive damage.
What is the cost of the TTR gene amyloidosis NGS test at DNA Labs India?
The TTR Gene Amyloidosis NGS Genetic Test costs INR 20,000 at DNA Labs India. This includes free home sample collection and a detailed clinical report along with raw data files.
What is the turnaround time for this genetic test?
The test report is typically available within 3 to 4 weeks from the date the sample is received by the laboratory.
Which sample is required for the TTR gene amyloidosis NGS test?
The sample can be blood collected in an EDTA tube, extracted DNA, or one drop of blood spotted on an FTA card. All are acceptable for the test.
Do I need to fast before the test?
No, fasting is not required for this genetic test. It is a DNA-based test and is not affected by dietary intake.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for the TTR Gene Amyloidosis NGS Genetic Test across more than 100 cities in India.
Will the test be covered by insurance?
Insurance coverage for genetic tests varies by policy. The test is often covered if medically indicated, but you should check with your insurance provider beforehand.
What do the results mean if a pathogenic variant is found?
Finding a pathogenic variant in the TTR gene confirms the diagnosis of hereditary TTR amyloidosis. Your doctor will review treatment options and discuss predictive testing for at-risk family members.
Can the test be done for asymptomatic family members?
Yes, predictive testing for at-risk family members is possible after a known pathogenic variant has been identified in an affected relative. Genetic counselling is essential before testing.
Are there any risks involved in genetic testing?
The physical risks are minimal, such as mild pain or bruising from blood collection. Psychosocial risks include anxiety or unexpected test results, which is why genetic counselling is recommended.
Why does DNA Labs India provide raw data, FASTQ, and VCF files?
DNA Labs India believes in full transparency. Providing raw data empowers patients to seek further bioinformatics analysis or seek a second opinion, ensuring complete confidence in the results.
What is the difference between NGS and Sanger sequencing for TTR gene?
NGS (next-generation sequencing) can analyse the entire TTR gene and detect all types of mutations in a single run, while Sanger sequencing is limited to specific known mutations. NGS is more comprehensive and cost-effective for complex disorders like TTR amyloidosis.
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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