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KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic Test

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KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic Test

Also known as: Congenital Dyserythropoietic Anemia Type IV, CDA IV, KLF1-related anemia

KLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm the diagnosis of Congenital Dyserythropoietic Anemia Type IV (CDA IV) by identifying mutations in the KLF1 gene through Next-Generation Sequencing (NGS).

Test Code
2684
Price
₹20,000
Sample Type
Blood, 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

Clinical history review and genetic counseling recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or FTA card.

Step 3

Report Delivery

Sample transported to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history evaluation.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report generation, interpretation, and follow-up consultation.

About This Test

Who Should Get This Test

To confirm the diagnosis of Congenital Dyserythropoietic Anemia Type IV (CDA IV) by identifying mutations in the KLF1 gene through Next-Generation Sequencing (NGS).

How to Prepare

  • Ensure proper sample labeling
  • Avoid hemolysis in blood samples
  • Follow aseptic techniques

Doctor's Notes

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

"Early diagnosis through NGS testing is crucial for managing CDA IV and preventing complications like gallstones and splenomegaly."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for extended periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the KLF1 gene associated with CDA IV.
📊

Positive for pathogenic variant

Confirms diagnosis of CDA IV; genetic counseling and clinical management recommended.

📊

Negative for pathogenic variant

No mutations detected; clinical correlation and further testing may be advised.

⚠️ When to Consult a Doctor:

If symptoms such as chronic anemia, jaundice, or family history of CDA IV are present.

Limitations

  • ⚠Test may not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestKLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic TestComplete Blood Count (CBC)Bone Marrow Biopsy
ComparisonKLF1 Gene Dyserythropoietic anemia, congenital, type 4 NGS Genetic Test

Frequently Asked Questions

What is KLF1 Gene Dyserythropoietic Anemia, Congenital, Type 4?
It is a rare genetic disorder caused by mutations in the KLF1 gene, leading to ineffective red blood cell production and symptoms like chronic anemia.
How is CDA IV inherited?
CDA IV is inherited in an autosomal dominant pattern, meaning only one mutated gene copy from a parent is needed to develop the condition.
What are the common symptoms of CDA IV?
Symptoms include chronic anemia, jaundice, splenomegaly, gallstones, and bone marrow erythroblastosis.
How is CDA IV diagnosed?
Diagnosis involves clinical evaluation, blood tests, and genetic testing such as NGS to confirm KLF1 gene mutations.
What does the NGS Genetic Test for CDA IV involve?
It uses Next-Generation Sequencing to analyze the KLF1 gene for pathogenic variants from a blood or DNA sample.
What is the cost of the KLF1 gene test at DNA Labs India?
The test costs INR 20,000, which includes home collection and report generation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for this test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of KLF1 gene mutations associated with CDA IV, requiring genetic counseling and management.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the test implications, interpret results, and guide family planning.
Can CDA IV be detected prenatally?
Prenatal testing may be possible through genetic analysis if there is a known family history, but consultation with a specialist is recommended.
What are the treatment options for CDA IV?
Treatment focuses on managing symptoms, such as blood transfusions for anemia, and monitoring for complications like gallstones; there is no cure, but early diagnosis aids management.
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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