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FBLIM1 Gene Kindler syndrome NGS Genetic Test

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FBLIM1 Gene Kindler syndrome NGS Genetic Test

Short Name: FBLIM1 Gene Kindler Syndrome NGS Test

FBLIM1 Gene Kindler syndrome 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the FBLIM1 Gene Kindler Syndrome NGS Genetic Test is to diagnose Kindler syndrome by identifying pathogenic mutations in the FBLIM1 gene using Next-Generation Sequencing technology. This test aids in confirming clinical suspicion, differentiating from other blistering disorders, guiding treatment strategies, and providing genetic counseling for affected families.

Test Code
5043
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Kindler syndrome are required before sample collection.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to assess family risk and prepare for testing.
2
During the Test:Sample collection involves a simple blood draw or use of an FTA card, performed by a trained professional.
3
After the Test:Results are delivered online within 3 to 4 weeks. Follow up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the FBLIM1 Gene Kindler Syndrome NGS Genetic Test is to diagnose Kindler syndrome by identifying pathogenic mutations in the FBLIM1 gene using Next-Generation Sequencing technology. This test aids in confirming clinical suspicion, differentiating from other blistering disorders, guiding treatment strategies, and providing genetic counseling for affected families.

How to Prepare

  • Blood sample: Collect via venipuncture in an EDTA tube.
  • Extracted DNA: Ensure proper storage and transport.
  • FTA Card: Use one drop of blood on the card as per instructions.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results from the FBLIM1 Gene Kindler Syndrome NGS Genetic Test indicate the presence or absence of mutations in the FBLIM1 gene. A positive result confirms a diagnosis of Kindler syndrome, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic FBLIM1 mutation

Confirms diagnosis of Kindler syndrome. Genetic counseling and management planning recommended.

📊

Negative for pathogenic FBLIM1 mutation

Kindler syndrome unlikely based on genetic testing. Consider other diagnoses or clinical correlation.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed for clarification. Consult a geneticist.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibits symptoms such as persistent skin blistering, sun sensitivity, scarring, eye problems, or gastrointestinal issues, especially with a family history of genetic disorders.

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the site.

Frequently Asked Questions

What is Kindler syndrome?
Kindler syndrome is a rare genetic disorder caused by mutations in the FBLIM1 gene, leading to skin blistering, photosensitivity, and other systemic issues.
How is Kindler syndrome diagnosed?
Diagnosis involves clinical evaluation, skin biopsy, and genetic testing such as the FBLIM1 Gene NGS Test to confirm mutations.
What are the symptoms of Kindler syndrome?
Symptoms include skin blisters, erosions, scarring, sun sensitivity, eye problems, tooth/nail abnormalities, and gastrointestinal issues.
Who should consider this genetic test?
Individuals with symptoms of Kindler syndrome or a family history of the disorder should consider testing for accurate diagnosis.
What sample is required for the test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The cost of the FBLIM1 Gene Kindler Syndrome NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive test result mean?
A positive result confirms a diagnosis of Kindler syndrome, indicating the presence of pathogenic FBLIM1 gene mutations.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, this test can be adapted for prenatal testing in high-risk families.
What should I do after receiving the test results?
Consult a healthcare provider or geneticist for interpretation, management options, and genetic counseling.
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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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.

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