Skip to main content
DNA Labs India

TUFT1 Gene Tuftelin deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TUFT1 Gene Tuftelin deficiency NGS Genetic Test

Short Name: TUFT1 Gene Test

Also known as: Tuftelin Deficiency Test, TUFT1 Gene Analysis, Tooth Enamel Genetic Test

TUFT1 Gene Tuftelin deficiency 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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

To identify mutations in the TUFT1 gene associated with tuftelin deficiency and tooth enamel defects, enabling early diagnosis and management.

Test Code
5159
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart. No fasting is required.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a saliva sample is provided, depending on the sample type chosen.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before sample collection.
2
During the Test:Sample collection, DNA extraction, and NGS analysis are performed in the laboratory.
3
After the Test:Report generation, genetic counseling session, and delivery of results with raw data files.

About This Test

Who Should Get This Test

To identify mutations in the TUFT1 gene associated with tuftelin deficiency and tooth enamel defects, enabling early diagnosis and management.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Inform the phlebotomist about any medications or health conditions
  • Ensure the sample is collected in the specified container

Doctor's Notes

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

"Early genetic testing for TUFT1 deficiency can guide dental care and prevent complications, especially in families with a history of enamel defects."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Room Temperature24 hours
Refrigerated (2-8°C)7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect container or labeling
  • Sample older than stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TUFT1 gene, which are associated with tuftelin deficiency.
📊

Positive for pathogenic variant

Confirms diagnosis of TUFT1 gene tuftelin deficiency. Genetic counseling and dental management recommended.

📊

Negative for pathogenic variant

No mutations detected in the TUFT1 gene. Symptoms may be due to other causes; further evaluation advised.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Repeat testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or dentist if results are positive, if there are persistent symptoms of tooth enamel defects, or for family planning advice.

Limitations

  • ⚠May not detect all genetic variants or deep intronic mutations
  • ⚠Requires interpretation by a qualified geneticist
  • ⚠Not a standalone diagnostic tool for all dental conditions

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks associated with saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Recent blood transfusion or stem cell transplant

Compare With Similar Tests

TestTUFT1 Gene Tuftelin deficiency NGS Genetic TestAmelogenesis Imperfecta Genetic TestWhole Exome Sequencing
ComparisonTUFT1 Gene Tuftelin deficiency NGS Genetic TestFocuses on broader enamel defects; TUFT1 test is specific for tuftelin deficiency.Comprehensive but more expensive; TUFT1 test is targeted and cost-effective for this condition.

Frequently Asked Questions

What is TUFT1 Gene Tuftelin Deficiency?
It is a rare genetic disorder caused by mutations in the TUFT1 gene, leading to defects in tooth enamel formation.
What are the symptoms of TUFT1 deficiency?
Symptoms include tooth enamel defects, delayed tooth eruption, sensitivity, small or malformed teeth, and increased risk of cavities.
How is TUFT1 deficiency diagnosed?
Diagnosis is through an NGS genetic test that analyzes the TUFT1 gene for mutations, using a blood or saliva sample.
What is the cost of the TUFT1 Gene Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Generally, it is not covered by insurance; patients may need to pay out of pocket. Check with your provider.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting tested?
Individuals with tooth enamel defects, family history of genetic dental disorders, or unexplained dental issues.
What does a positive result mean?
A positive result confirms mutations in the TUFT1 gene, indicating tuftelin deficiency. Genetic counseling is recommended.
Can the test detect all genetic variants?
The test uses NGS technology for high accuracy, but it may not detect all variants, such as deep intronic mutations.
Where can I get this test done?
DNA Labs India offers this test with home collection in multiple cities across India, including Mumbai, Delhi, Bangalore, and more.
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

Nx Gen Sequencing: Usher Syndrome Test

₹28,665

Nx Gen Sequencing: Retinitis Pigmentosa Test

₹20,000

PDE6H Gene Achromatopsia Type 6 NGS Genetic Test

₹20,000

CACNA1F Gene Aland Island Eye Disease NGS Genetic Test

₹20,000

TGFBI Gene Corneal Dystrophy, Epithelial Basement Membrane NGS Genetic Test

₹20,000

ADAMTSL4 Gene Ectopia Lentis Et Pupillae 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.