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DNA Labs India

DKC1 Gene Dyskeratosis congenita, X-linked NGS Genetic Test

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DKC1 Gene Dyskeratosis congenita, X-linked NGS Genetic Test

Also known as: X-linked Dyskeratosis Congenita, DKC1-related Dyskeratosis Congenita

DKC1 Gene Dyskeratosis congenita, X-linked 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose X-linked Dyskeratosis Congenita by identifying mutations in the DKC1 gene using NGS technology.

Test Code
4901
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

Clinical history and genetic counseling session recommended.

Method: Blood sample collection via venipuncture or FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Blood sample collection.
3
After the Test:Wait for results and follow-up with physician.

About This Test

Who Should Get This Test

To diagnose X-linked Dyskeratosis Congenita by identifying mutations in the DKC1 gene using NGS technology.

How to Prepare

  • Ensure proper sample handling
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for DKC1 is essential for confirming diagnosis and guiding family planning in cases of suspected X-linked Dyskeratosis Congenita."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood sample collection via venipuncture or FTA card

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the DKC1 gene.
📊

Pathogenic variant detected

Confirms diagnosis of X-linked Dyskeratosis Congenita

📊

No pathogenic variant detected

DC unlikely, but clinical correlation needed

⚠️ When to Consult a Doctor:

If symptoms of DC are present or if there is a family history, consult a geneticist or dermatologist.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA

Frequently Asked Questions

What is DKC1 Gene Dyskeratosis Congenita?
It is a rare X-linked genetic disorder caused by mutations in the DKC1 gene, leading to telomere dysfunction and symptoms like skin pigmentation abnormalities, nail dystrophy, and bone marrow failure.
How is the DKC1 Gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the entire DKC1 gene for mutations from a blood or DNA sample.
What is the cost of the DKC1 Gene test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of Dyskeratosis Congenita?
Symptoms include oral leukoplakia, abnormal skin pigmentation, nail dystrophy, bone marrow failure, and pulmonary fibrosis.
Who should consider getting the DKC1 Gene test?
Individuals with symptoms of DC, a family history of the disorder, or those suspected of having a genetic condition should consider testing.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic DKC1 mutation, indicating X-linked Dyskeratosis Congenita.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible, but consultation with a genetic specialist is necessary to discuss options.
Are there any risks associated with the genetic test?
Risks are minimal, mainly related to blood draw, but there may be psychological impacts from the results.
How accurate is the NGS technology for this test?
NGS is highly accurate for detecting mutations in the DKC1 gene, providing reliable diagnostic information.
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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