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PALB2 Gene Fanconi anemia type N NGS Genetic Test

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PALB2 Gene Fanconi anemia type N NGS Genetic Test

Short Name: PALB2 FA Type N NGS Test

Also known as: Fanconi Anemia Type N, PALB2-Related Fanconi Anemia, FA-N

PALB2 Gene Fanconi anemia type N 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the PALB2 gene to diagnose Fanconi anemia type N, assess cancer risk, and guide clinical management.

Test Code
4680
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

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or alternative methods as specified.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No specific preparation required. Provide clinical history and undergo genetic counseling.
2
During the Test:A blood sample will be collected via venipuncture or alternative methods as specified.
3
After the Test:Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the PALB2 gene to diagnose Fanconi anemia type N, assess cancer risk, and guide clinical management.

How to Prepare

  • Bring identification and prescription
  • Inform about any medications or health conditions
  • Follow any specific instructions from the healthcare provider

Doctor's Notes

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

"Genetic testing for PALB2 mutations is essential for accurate diagnosis and management of Fanconi anemia type N, enabling early intervention and family screening."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 48 hours
Extracted DNA stable for longer periods under proper storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of mutations in the PALB2 gene associated with Fanconi anemia type N.
Positive: Pathogenic mutation detected, confirming diagnosis and increased cancer risk
Negative: No mutation detected, but clinical correlation needed for symptoms
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If you experience symptoms of Fanconi anemia or have a family history, consult a geneticist or hematologist for evaluation and genetic counseling.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risk from blood draw, such as bruising, infection, or discomfort

Interfering Factors

  • Contaminated DNA sample
  • Improper sample storage
  • Recent blood transfusion

Frequently Asked Questions

What is the PALB2 Gene Fanconi Anemia Type N NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the PALB2 gene, which causes Fanconi anemia type N, a rare disorder affecting bone marrow and increasing cancer risk.
Why is this test important?
This test is important for diagnosing Fanconi anemia type N, guiding treatment decisions, assessing cancer risk, and informing family members about potential genetic risks.
What are the symptoms of Fanconi anemia type N?
Symptoms include low blood cell counts, abnormal skin pigmentation, skeletal abnormalities, and an increased risk of leukemia and solid tumors.
How is the test performed?
The test is performed using a blood sample or extracted DNA, analyzed via next-generation sequencing technology to identify PALB2 gene mutations.
What is the cost of the test?
The cost of the PALB2 Gene Fanconi Anemia Type N NGS Genetic Test is INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the PALB2 gene, confirming Fanconi anemia type N diagnosis and increased cancer risk, requiring further medical management.
Can family members be tested?
Yes, if a patient tests positive, family members may be at risk and should consider genetic testing for early detection and management.
Is the test covered by insurance?
Coverage varies by insurance plan; it is recommended to check with your provider. DNA Labs India offers various payment options.
What is the accuracy of the test?
The test uses advanced NGS technology with high accuracy, but results should be interpreted by a genetic counselor or healthcare professional in clinical context.
How should I prepare for the test?
No specific preparation is required. Provide your clinical history and undergo genetic counseling as recommended before sample collection.
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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