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FANCI Gene Fanconi anemia type I NGS Genetic Test

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FANCI Gene Fanconi anemia type I NGS Genetic Test

Short Name: FANCI Gene FA Type I NGS Test

Also known as: FANCI Gene Test, Fanconi Anemia Type I Genetic Test, FA Type I DNA Test

FANCI Gene Fanconi anemia type I 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

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a diagnosis of Fanconi Anemia Type I by identifying mutations in the FANCI gene, assist in carrier testing for family members, and support genetic counseling and treatment planning.

Test Code
1986
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 special preparation required. Provide clinical history and genetic counseling session details.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the sample at room temperature for transport.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and family history.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis.
3
After the Test:Report review with healthcare provider and follow-up genetic counseling if needed.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of Fanconi Anemia Type I by identifying mutations in the FANCI gene, assist in carrier testing for family members, and support genetic counseling and treatment planning.

How to Prepare

  • Ensure proper patient identification
  • Use aseptic technique
  • Label sample correctly with patient details
  • Transport sample within stability timeframe

Doctor's Notes

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

"This test is crucial for early diagnosis of Fanconi Anemia, enabling timely intervention and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples stable at room temperature for 48 hours
Extracted DNA stable at 4°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or container

Understanding Your Results

Results indicate whether pathogenic mutations in the FANCI gene are detected. A positive result confirms genetic predisposition to Fanconi Anemia Type I, while a negative result suggests no mutation in the tested region.
📊

Pathogenic variant detected

Confirms diagnosis of Fanconi Anemia Type I. Carrier testing recommended for family members.

📊

No pathogenic variant detected

FA Type I unlikely due to FANCI mutations. Consider testing for other FA genes if clinical suspicion remains.

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation needed. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or hematologist for positive results, family planning advice, or if symptoms persist despite negative test results.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions, deep intronic mutations)
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out mutations in other FA-related genes

Risks & Considerations

  • ●Minimal physical risks from blood draw (bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Risk of misinterpretation without professional guidance

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Use of anticoagulants other than EDTA

Compare With Similar Tests

TestFANCI Gene Fanconi anemia type I NGS Genetic TestChromosome Breakage TestComplete Blood Count (CBC)Bone Marrow AspirationKaryotyping
ComparisonFANCI Gene Fanconi anemia type I NGS Genetic Test

Frequently Asked Questions

What is the FANCI Gene Fanconi Anemia Type I NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the FANCI gene, which causes Fanconi Anemia Type I, a rare genetic disorder affecting bone marrow and causing physical abnormalities.
Who should take this test?
Individuals with symptoms of Fanconi Anemia, family history of the condition, or those seeking carrier testing for genetic counseling.
How is the sample collected?
Sample can be blood via venipuncture, extracted DNA, or a blood drop on an FTA card. Home collection is available.
What is the cost of the test?
The test costs INR 20000, inclusive of sample collection and report generation.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations are detected. A positive result confirms diagnosis, while negative suggests no mutation in FANCI gene. Consult a genetic counselor for interpretation.
Is the test accurate?
NGS technology offers high accuracy for detecting gene mutations, but limitations exist. Results should be interpreted by a specialist.
Can this test detect carrier status?
Yes, it can identify carriers who have one mutated copy of the FANCI gene, aiding in family planning.
What are the risks of the test?
Minimal physical risks from blood draw. Psychological impact possible due to genetic information. Genetic counseling is recommended.
Is home sample collection available?
Yes, free home sample collection is available in multiple cities across India. Book online for convenience.
Which cities offer home collection?
Home collection is available in cities including Mumbai, Delhi, Bangalore, Hyderabad, and many more. Check the website for full list.
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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