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FANCA Gene Fanconi anemia type A NGS Genetic Test

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FANCA Gene Fanconi anemia type A NGS Genetic Test

Short Name: FANCA Gene Test

Also known as: Fanconi Anemia Type A NGS Test, FANCA Gene Mutation Test

FANCA Gene Fanconi anemia type A 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify mutations in the FANCA gene for accurate diagnosis of Fanconi Anemia Type A, aiding in early intervention and management.

Test Code
4675
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

Provide detailed clinical and family history. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Blood Draw or FTA Card

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or FTA card collection.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and family history assessment are recommended prior to testing.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Wait for results (3-4 weeks) and schedule follow-up counseling.

About This Test

Who Should Get This Test

To identify mutations in the FANCA gene for accurate diagnosis of Fanconi Anemia Type A, aiding in early intervention and management.

How to Prepare

  • No fasting required
  • Provide detailed family history and medical records
  • Ensure proper identification and labeling of samples

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic testing for FANCA mutations is crucial for timely management of Fanconi Anemia Type A, which can prevent complications like bone marrow failure and cancer."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or FTA Card

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the FANCA gene. Consult a geneticist for detailed interpretation.
📊

No pathogenic variants

Normal FANCA gene; low risk for Fanconi Anemia Type A

📊

Pathogenic variant detected

Diagnosis of Fanconi Anemia Type A; further clinical evaluation recommended

⚠️ When to Consult a Doctor:

If symptoms of Fanconi anemia are present, such as low blood cell counts or developmental abnormalities, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Results require genetic counseling for interpretation
  • ⚠Not a diagnostic test for all Fanconi anemia complementation groups

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestFANCA Gene Fanconi anemia type A NGS Genetic Test
ComparisonFANCA Gene Fanconi anemia type A NGS Genetic Test

Frequently Asked Questions

What is the FANCA Gene Fanconi Anemia Type A NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the FANCA gene, diagnosing Fanconi Anemia Type A.
Why is this test important?
Early diagnosis helps in managing symptoms, preventing complications like bone marrow failure and cancer, and guiding family planning.
What are the symptoms of Fanconi Anemia Type A?
Symptoms include low blood cell counts, frequent infections, abnormal skin pigmentation, developmental abnormalities, and increased cancer risk.
How is the test performed?
A blood sample or extracted DNA is analyzed using NGS technology to detect FANCA gene mutations.
What sample is required for the test?
Blood, 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.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the FANCA gene, confirming Fanconi Anemia Type A diagnosis.
What should I do if I have a family history of Fanconi anemia?
Consider genetic testing and counseling to assess risk and plan for early intervention.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but psychological impact of results should be considered.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but results should be interpreted with 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.

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✓ 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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