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KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test

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KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test

Short Name: NFJS NGS Genetic Test

Also known as: Naegeli-Franceschetti-Jadassohn Syndrome, NFJS

KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 confirm diagnosis of Naegeli-Franceschetti-Jadassohn syndrome by detecting mutations in the KRT14 gene using next-generation sequencing, enabling accurate management and genetic counseling.

Test Code
5061
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, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss symptoms, family history, and implications of testing.
2
During the Test:Sample collection followed by NGS analysis in the laboratory.
3
After the Test:Receive the report via chosen method and discuss results with a healthcare provider for management.

About This Test

Who Should Get This Test

To confirm diagnosis of Naegeli-Franceschetti-Jadassohn syndrome by detecting mutations in the KRT14 gene using next-generation sequencing, enabling accurate management and genetic counseling.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Inform the collector about any medications or health conditions
  • Ensure sample is labeled correctly

Doctor's Notes

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

"Early genetic testing for NFJS can guide management and family planning, especially for individuals with a family history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the KRT14 gene associated with Naegeli-Franceschetti-Jadassohn syndrome.
Positive: Pathogenic mutation detected, confirming NFJS diagnosis
Negative: No pathogenic variants found, but clinical correlation is advised
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of NFJS are present, such as thickened skin, reduced sweating, or nail abnormalities, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations in the KRT14 gene
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results may have variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestKRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic TestSanger SequencingWhole Exome SequencingSkin Biopsy
ComparisonKRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test

Frequently Asked Questions

What is Naegeli-Franceschetti-Jadassohn syndrome (NFJS)?
NFJS is a rare inherited disorder affecting the skin, nails, and sweat glands, caused by mutations in the KRT14 gene.
What causes NFJS?
NFJS is caused by mutations in the KRT14 gene, which provides instructions for making keratin 14 protein essential for skin development.
What are the symptoms of NFJS?
Symptoms include hyperkeratosis (thick skin), hypohidrosis (reduced sweating), pitted nails, abnormal hair growth, and enlarged pores.
How is NFJS diagnosed?
Diagnosis is based on clinical examination, skin biopsy, and confirmed through genetic testing like the KRT14 NGS test.
What is the KRT14 gene?
The KRT14 gene encodes keratin 14, a protein crucial for the structural integrity of skin, nails, and sweat glands.
What is NGS technology?
Next-generation sequencing (NGS) is a high-throughput method that analyzes multiple genes simultaneously for efficient genetic testing.
How accurate is this genetic test?
The test uses advanced NGS technology to provide high accuracy in detecting KRT14 mutations, but genetic counseling is recommended for interpretation.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What is the cost of the test?
The test costs INR 20,000, with no hidden charges, and includes sample collection and analysis.
How can I prepare for the test?
No special preparation is needed. Provide clinical history and undergo genetic counseling before testing.
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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