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FANCB Gene Fanconi anemia type B NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FANCB Gene Fanconi anemia type B NGS Genetic Test

Short Name: FANCB Gene NGS Test

Also known as: FANCB Mutation Analysis, FANCB Gene Sequencing Test, Fanconi Anemia Type B Genetic Panel, FANCB NGS Panel, FANCB DNA Test

FANCB Gene Fanconi anemia type B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the FANCB Gene Fanconi Anemia Type B NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the FANCB gene to confirm a molecular diagnosis of Fanconi Anemia type B. This test aids clinicians in establishing a definitive diagnosis, differentiating FA type B from other inherited bone marrow failure syndromes and other FA complementation groups, guiding treatment decisions including eligibility for hematopoietic stem cell transplantation, enabling cancer risk assessment and surveillance planning, and facilitating carrier testing and reproductive genetic counselling for at-risk family members.

Test Code
1984
CPT Code
81479
ICD Code
D61.09
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt at the laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis
Step 1

Sample Collection

No special preparation such as fasting is required. Patients should bring a valid government-issued photo ID and the doctor's prescription or referral. Provide a detailed family history and pedigree chart if available. Inform the collection centre of any recent blood transfusions or bone marrow transplant.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 mL of peripheral blood in an EDTA (lavender top) vacutainer using standard venipuncture technique. For FTA card collection, one drop of blood will be spotted on the designated area and allowed to dry completely. The process typically takes less than 5 minutes.

Step 3

Report Delivery

The blood sample or FTA card is labelled, stored at ambient room temperature, and transported to the DNA Labs India molecular genetics laboratory under controlled conditions. The report will be available in 3 to 4 weeks and delivered via online portal, email, or WhatsApp.

Timeline: 3 to 4 Weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:No special preparation is required. A physician's prescription or referral is necessary. A genetic counselling session is recommended prior to testing to draw a pedigree chart of family members affected with Fanconi Anemia type B and to discuss the implications of potential results. Provide the clinical history of the patient including any known family history of Fanconi Anemia, bone marrow failure syndromes, congenital anomalies, or consanguinity.
2
During the Test:A blood sample of 3-5 mL is collected via venipuncture into an EDTA vacutainer, or alternatively one drop of blood is spotted on an FTA card. The sample is labelled and dispatched to the DNA Labs India molecular genetics laboratory for Next-Generation Sequencing analysis of the FANCB gene.
3
After the Test:Results are available in 3 to 4 weeks. The report will detail any variants detected in the FANCB gene along with their clinical classification. Genetic counselling is strongly recommended after receiving results, especially if pathogenic variants or VUS are detected. Follow-up clinical management should be coordinated with a haematologist and clinical geneticist.

About This Test

Who Should Get This Test

The purpose of the FANCB Gene Fanconi Anemia Type B NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the FANCB gene to confirm a molecular diagnosis of Fanconi Anemia type B. This test aids clinicians in establishing a definitive diagnosis, differentiating FA type B from other inherited bone marrow failure syndromes and other FA complementation groups, guiding treatment decisions including eligibility for hematopoietic stem cell transplantation, enabling cancer risk assessment and surveillance planning, and facilitating carrier testing and reproductive genetic counselling for at-risk family members.

How to Prepare

  • Collect 3-5 mL peripheral blood in a lavender top (EDTA) vacutainer
  • Alternatively, one drop of blood on an FTA card is acceptable
  • Do not use heparin anticoagulant tubes as heparin can inhibit NGS library preparation
  • Label the sample with patient name, date of birth, and sample ID
  • Store and transport at ambient room temperature (15-30°C)
  • Avoid freezing the sample
  • If using an FTA card, allow blood to dry completely before packaging

Doctor's Notes

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

"Fanconi Anemia type B, caused by mutations in the FANCB gene on the X chromosome, presents unique inheritance patterns. Carrier mothers can be identified through genetic testing. Early genetic diagnosis is critical for initiating bone marrow monitoring, cancer surveillance, and genetic counselling for family planning. I recommend this test for any child presenting with unexplained bone marrow failure, congenital anomalies suggestive of Fanconi anemia, or a positive chromosome breakage test. Prenatal and preimplantation genetic testing options are available for known carrier families."

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 peripheral blood in EDTA tube
ContainerLavender top EDTA vacutainer
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA at ambient temperature (15-30°C)
FTA Card at ambient temperature
Extracted DNA at 2-8°C
Sample Rejection Criteria:
  • Sample collected in heparin anticoagulant tube
  • Haemolysed or clotted blood sample
  • Sample without proper labelling or identification
  • Insufficient sample volume (less than 1 mL)
  • Sample contaminated or showing signs of microbial growth
  • Sample received without a signed test requisition form or doctor's prescription

Understanding Your Results

The FANCB Gene Fanconi Anemia Type B NGS Genetic Test report will indicate whether pathogenic or likely pathogenic mutations were detected in the FANCB gene. A positive result confirms a molecular diagnosis of Fanconi Anemia type B. A negative result does not entirely exclude Fanconi Anemia, as mutations may exist in other FA genes. Variants of Uncertain Significance (VUS) require clinical correlation and may need follow-up testing or family studies. All results should be interpreted by a qualified clinical geneticist or genetic counsellor in the context of the patient's clinical presentation and family history.
📊

Pathogenic or Likely Pathogenic variant detected

Confirms molecular diagnosis of Fanconi Anemia type B. Enables targeted clinical management, cancer surveillance, genetic counselling, and family cascade testing.

📊

Variant of Uncertain Significance (VUS) detected

The clinical significance of the detected variant is currently unknown. Recommend genetic counselling, family segregation studies, periodic variant reclassification, and correlation with clinical phenotype and chromosome breakage test results.

📊

No pathogenic variant detected

No mutation was identified in the FANCB gene. This does not exclude Fanconi Anemia if clinical suspicion is high, as mutations may be in other FA genes (FANCA, FANCC, FANCD2, etc.) or in non-coding regions not covered by this test. Consider comprehensive FA gene panel testing.

📊

Likely Benign or Benign variant detected

The detected variant is not considered clinically significant for Fanconi Anemia type B. No specific clinical action required for this finding.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or haematologist if the test result is positive (pathogenic variant detected), if a Variant of Uncertain Significance is identified, if clinical symptoms persist despite a negative result, or if you require genetic counselling for family planning or carrier testing. Urgent consultation is advised if the patient shows signs of bone marrow failure, declining blood counts, or new-onset malignancy.

Limitations

  • ⚠This test specifically targets the FANCB gene and does not analyze all 22 Fanconi Anemia genes
  • ⚠Deep intronic mutations, regulatory region variants, and large structural rearrangements may not be detected
  • ⚠Variants of Uncertain Significance (VUS) may be identified and require clinical correlation and periodic reclassification
  • ⚠Results should always be interpreted in conjunction with clinical findings, family history, and chromosome breakage test results
  • ⚠Mosaicism at very low levels may not be reliably detected by this method
  • ⚠This test does not detect mitochondrial DNA variants or epigenetic changes

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Very rare risk of infection at the blood draw site
  • ●Psychological impact of receiving genetic diagnosis — genetic counselling recommended before and after testing
  • ●Detection of Variants of Uncertain Significance (VUS) may cause anxiety; clinical correlation is essential

Interfering Factors

  • ●Contaminated or degraded DNA samples may produce inconclusive results
  • ●Blood samples collected in heparin tubes can interfere with NGS library preparation
  • ●Recent blood transfusions within the past 4 weeks may affect results due to donor DNA
  • ●Low sample volume may reduce sequencing coverage and sensitivity

Compare With Similar Tests

TestFANCB Gene Fanconi anemia type B NGS Genetic TestChromosome Breakage Test (DEB/MMC)FANCB Gene Sanger SequencingComprehensive Fanconi Anemia NGS PanelWhole Exome Sequencing (WES)
ComparisonFANCB Gene Fanconi anemia type B NGS Genetic Test

Frequently Asked Questions

What is the FANCB Gene Fanconi Anemia Type B NGS Genetic Test?
The FANCB Gene Fanconi Anemia Type B NGS Genetic Test is a molecular diagnostic test that uses Next-Generation Sequencing (NGS) technology to detect mutations in the FANCB gene. Mutations in this gene cause Fanconi Anemia type B, a rare inherited disorder that leads to bone marrow failure, congenital abnormalities, and an increased risk of cancers. This test helps confirm a diagnosis and guide clinical management.
Who should get the FANCB Gene Fanconi Anemia Type B Genetic Test?
This test is recommended for patients with unexplained bone marrow failure or aplastic anemia, individuals with a positive chromosome breakage test (DEB/MMC), patients with clinical features suggestive of Fanconi Anemia such as congenital anomalies or café-au-lait spots, individuals with a known family history of Fanconi Anemia type B or FANCB mutations, and females who may be carriers of an X-linked FANCB mutation.
What is the cost of the FANCB Gene Fanconi Anemia Type B NGS Genetic Test in India?
The cost of the FANCB Gene Fanconi Anemia Type B NGS Genetic Test at DNA Labs India is INR 20000. This price includes home sample collection, NGS analysis, bioinformatics interpretation, and digital report delivery. The cost may vary slightly by location.
What sample is required for the FANCB Gene Genetic Test?
The test requires 3-5 mL of peripheral blood collected in an EDTA (lavender top) vacutainer. Alternatively, extracted DNA or one drop of blood on an FTA card can be used. No fasting is required before sample collection.
How long does it take to get the FANCB Gene NGS Test results?
The turnaround time for the FANCB Gene Fanconi Anemia Type B NGS Genetic Test is 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp.
Is Fanconi Anemia type B an X-linked disorder?
Yes, the FANCB gene is located on the X chromosome (Xp22.2), making Fanconi Anemia type B an X-linked recessive disorder. Males are predominantly affected because they have only one X chromosome. Females with one mutated copy of FANCB are typically carriers and may have mild or no symptoms, although skewed X-inactivation can occasionally lead to clinical manifestations in carrier females.
Can Fanconi Anemia type B be detected prenatally?
Yes, if the specific FANCB mutation is already identified in the family, prenatal testing can be performed using chorionic villus sampling (CVS) or amniocentesis. Preimplantation genetic testing (PGT) is also available for families undergoing in vitro fertilisation (IVF) who wish to select unaffected embryos. Genetic counselling is recommended before pursuing prenatal testing.
Is the FANCB Gene NGS Test covered by insurance in India?
Genetic testing for Fanconi Anemia type B is not typically covered by standard health insurance policies in India. However, some private insurance plans and government schemes may offer partial or full reimbursement. Patients are advised to check with their insurance provider before undergoing testing. DNA Labs India provides the test at a competitive price of INR 20000.
What is the difference between the FANCB Gene NGS Test and a comprehensive Fanconi Anemia panel?
The FANCB Gene NGS Test specifically analyses the FANCB gene for mutations, making it ideal when a chromosome breakage test is positive and X-linked inheritance is suspected. A comprehensive Fanconi Anemia NGS panel analyses all 22+ known FA genes simultaneously, which is useful when the complementation group is unknown or when FANCB testing is negative but clinical suspicion remains. The panel test is broader but may cost more.
What happens if a Variant of Uncertain Significance (VUS) is found?
A Variant of Uncertain Significance (VUS) means that the genetic change detected has not been conclusively classified as pathogenic or benign. This does not confirm or rule out a diagnosis. Your genetic counsellor will recommend clinical correlation, family segregation studies, periodic re-evaluation as scientific knowledge advances, and potentially additional testing such as a comprehensive FA panel or functional studies.
Can carrier females of FANCB mutations develop Fanconi Anemia symptoms?
Although Fanconi Anemia type B follows X-linked recessive inheritance, carrier females can occasionally exhibit clinical features. This can occur due to skewed X-chromosome inactivation, where the normal X chromosome is preferentially inactivated in a significant proportion of cells. Carrier testing and genetic counselling are recommended for all females in families with known FANCB mutations.
Is home sample collection available for the FANCB Gene Genetic Test?
Yes, DNA Labs India offers free home sample collection for the FANCB Gene Fanconi Anemia Type B NGS Genetic Test across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. You can book online or call our helpline to schedule a convenient collection time. A trained phlebotomist will visit your home to collect the blood sample.
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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