FANCD2 Gene Fanconi anemia type D2 NGS Genetic Test
Short Name: FANCD2 Gene Test
Also known as: FANCD2 Mutation Analysis, Fanconi Anemia D2 Genetic Test, FANCD2 NGS Test
FANCD2 Gene Fanconi anemia type D2 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of the FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic Test is to accurately diagnose Fanconi Anemia Type D2 by identifying mutations in the FANCD2 gene. This test aids in confirming the genetic cause of symptoms such as bone marrow failure and developmental delays, enabling appropriate medical management and genetic counseling for affected families.
- Test Code
- 1980
- 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)
Sample Collection
No specific preparation is required. Provide clinical history and family pedigree for genetic counseling.
Method: Venipuncture for blood samples or buccal swab for saliva
Laboratory Analysis
A blood sample will be drawn from a vein, or a saliva sample may be collected using a buccal swab.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. No post-collection restrictions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the FANCD2 Gene Fanconi Anemia Type D2 NGS Genetic Test is to accurately diagnose Fanconi Anemia Type D2 by identifying mutations in the FANCD2 gene. This test aids in confirming the genetic cause of symptoms such as bone marrow failure and developmental delays, enabling appropriate medical management and genetic counseling for affected families.
How to Prepare
- Ensure sample is collected in a sterile environment.
- Label the sample correctly with patient details.
- Transport the sample as per lab instructions.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for FANCD2 gene mutations is essential for confirming Fanconi Anemia Type D2 and guiding treatment strategies to manage symptoms and reduce cancer risk."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples.
- Insufficient sample volume.
- Improperly labeled samples.
Understanding Your Results
Normal
No pathogenic variants detected in the FANCD2 gene.
Abnormal
Pathogenic variants identified, indicating Fanconi Anemia Type D2.
Variant of Uncertain Significance
Genetic change detected, but clinical significance is unknown; further testing may be needed.
Consult a doctor if you experience symptoms such as chronic anemia, frequent infections, easy bruising, or have a family history of Fanconi Anemia. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions or intronic variants)
- ⚠Results are based on current knowledge of FANCD2 gene variants
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection.
- ●Psychological impact of genetic diagnosis.
Interfering Factors
- ●Contaminated DNA samples
- ●Improper sample storage
- ●Use of non-standard collection methods
Compare With Similar Tests
| Test | FANCD2 Gene Fanconi anemia type D2 NGS Genetic Test | FANCA Gene Fanconi Anemia Type A NGS Genetic Test | FANCG Gene Fanconi Anemia Type G NGS Genetic Test | Comprehensive Fanconi Anemia NGS Panel | Chromosome Breakage Test for Fanconi Anemia |
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Frequently Asked Questions
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