XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test
Short Name: XRCC2 FA NGS Test
Also known as: XRCC2 Gene Sequencing Test, Fanconi Anemia XRCC2 NGS Test, XRCC2 Mutation Analysis, Fanconi Anemia Genetic Panel - XRCC2, XRCC2 DNA Repair Gene Test
XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Pipeline Analysis, ACMG Variant Classification 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the XRCC2 Gene Fanconi Anemia NGS Genetic Test is to detect pathogenic or likely pathogenic mutations in the XRCC2 gene for the definitive diagnosis of Fanconi Anemia complementation group. This test aids in confirming a clinical diagnosis, identifying carriers within families, guiding treatment decisions including bone marrow transplant planning, informing reproductive counseling, and enabling surveillance for cancer risk management.
- Test Code
- 1989
- 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), Bioinformatics Pipeline Analysis, ACMG Variant Classification
Sample Collection
A genetic counseling session is recommended prior to sample collection. The clinical history of the patient should be documented, including family history of Fanconi Anemia, bone marrow failure, or cancer. A pedigree chart of affected family members should be drawn during the counseling session. No fasting is required.
Method: Venipuncture / FTA Card finger prick
Laboratory Analysis
Blood sample collection is performed via standard venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood can be placed on an FTA card. The collection procedure is minimally invasive and takes approximately 5-10 minutes.
Report Delivery
After sample collection, the blood or DNA sample is transported to the laboratory under controlled ambient temperature conditions. The sample undergoes DNA extraction, library preparation, and NGS sequencing. Results are typically available within 3 to 4 weeks and delivered via the online portal, email, or WhatsApp.
Timeline: 3 to 4 weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the XRCC2 Gene Fanconi Anemia NGS Genetic Test is to detect pathogenic or likely pathogenic mutations in the XRCC2 gene for the definitive diagnosis of Fanconi Anemia complementation group. This test aids in confirming a clinical diagnosis, identifying carriers within families, guiding treatment decisions including bone marrow transplant planning, informing reproductive counseling, and enabling surveillance for cancer risk management.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) tube
- Alternatively, place one drop of blood on an FTA Card and allow it to dry completely
- Label the sample with patient name, date of birth, and sample ID
- Transport the sample at ambient room temperature to the laboratory
- Avoid hemolysis during collection; do not use a tourniquet for more than 1 minute
- Ensure the EDTA tube is gently inverted 8-10 times after collection to prevent clotting
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Fanconi Anemia caused by XRCC2 gene mutations is rare but carries significant clinical implications including bone marrow failure and elevated cancer risk. Genetic testing through NGS technology provides high sensitivity for variant detection. I recommend this test for individuals presenting with unexplained bone marrow failure, characteristic physical anomalies, or a family history of Fanconi Anemia. Early diagnosis enables proactive surveillance and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample in EDTA tube
- Severely hemolyzed sample
- Sample received without proper labeling or identification
- Insufficient sample volume
- Sample collected in incorrect tube type (e.g., heparin tube)
- Sample older than stability period for the collection type
Understanding Your Results
Negative - No pathogenic variants detected
No disease-causing mutations were identified in the XRCC2 gene. This result does not entirely exclude Fanconi Anemia, which may be caused by mutations in other FA-associated genes. Clinical correlation and additional testing may be warranted.
Positive - Pathogenic or Likely Pathogenic variant(s) detected
One or more mutations in the XRCC2 gene classified as pathogenic or likely pathogenic were identified. Homozygous or compound heterozygous pathogenic variants are consistent with a diagnosis of Fanconi Anemia (XRCC2-related). A single heterozygous pathogenic variant indicates carrier status. Genetic counseling and further clinical evaluation are strongly recommended.
Variant of Uncertain Significance (VUS)
A genetic variant in XRCC2 was detected that cannot currently be classified as pathogenic or benign based on available evidence. Clinical correlation, family studies, and periodic re-evaluation are recommended. This result should not be used for clinical decision-making without expert genetic counseling.
Carrier (Heterozygous)
A single pathogenic or likely pathogenic variant was detected in the XRCC2 gene, indicating the individual is a carrier of Fanconi Anemia (XRCC2-related). Carriers are typically unaffected but have an increased risk of having affected children if the partner is also a carrier. Partner testing and reproductive counseling are recommended.
Consult a doctor or clinical geneticist if: the test result is positive for pathogenic variants; a Variant of Uncertain Significance (VUS) is detected; the patient has clinical symptoms of Fanconi Anemia such as unexplained anemia, recurrent infections, easy bruising, or physical anomalies; or if family planning decisions need to be made based on carrier status. Urgent consultation is recommended if bone marrow failure symptoms develop.
Limitations
- ⚠This test analyzes only the XRCC2 gene; mutations in other Fanconi Anemia-associated genes (e.g., FANCA, FANCC, FANCG) will not be detected unless a comprehensive panel is ordered
- ⚠Deep intronic mutations, large structural rearrangements, or repeat expansions may not be fully captured by standard NGS
- ⚠Variants of Uncertain Significance (VUS) may be reported and require periodic reclassification
- ⚠A negative result does not completely exclude Fanconi Anemia if caused by mutations in other genes or undetectable mechanisms
- ⚠This test is not validated for prenatal diagnosis from chorionic villus sampling or amniocentesis without prior validation
Risks & Considerations
- ●Minimal risk associated with blood collection such as mild pain, bruising, or infection at the venipuncture site
- ●Potential psychological impact of receiving a positive genetic diagnosis; genetic counseling is recommended
- ●Risk of identifying Variants of Uncertain Significance (VUS) which may cause anxiety without clear clinical guidance
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality
- ●Degraded or insufficient DNA sample may reduce sequencing accuracy
- ●Hemolyzed blood samples may compromise results
- ●Concurrent use of certain chemotherapeutic agents may affect DNA integrity
Compare With Similar Tests
| Test | XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test | Chromosome Breakage Test (DEB/MMC) | FANCA Gene NGS Genetic Test | Complete Fanconi Anemia Gene Panel NGS Test | Sanger Sequencing of XRCC2 |
|---|---|---|---|---|---|
| Comparison | XRCC2 Gene Fanconi anemia, XRCCR2 related NGS Genetic Test | The chromosome breakage test is a functional assay that detects increased chromosomal breakage in FA cells but cannot identify the specific gene involved. The XRCC2 NGS test provides gene-specific molecular confirmation. | FANCA mutations account for the majority of FA cases worldwide. The XRCC2 NGS test targets a rarer complementation group. A comprehensive FA gene panel may be preferred for broad screening. | A comprehensive panel tests multiple FA-associated genes simultaneously, including FANCA, FANCC, FANCG, FANCD2, XRCC2, and others. Recommended when the specific complementation group is unknown. | Sanger sequencing targets individual exons and is less efficient and more costly for screening entire genes. NGS provides higher throughput, better coverage, and detection of multiple variant types simultaneously. |
Frequently Asked Questions
What is the XRCC2 Gene Fanconi Anemia NGS Genetic Test?
Who should get the XRCC2 Gene Fanconi Anemia Genetic Test?
What sample type is required for this test?
How long does it take to receive the results?
What is the cost of the XRCC2 Gene Fanconi Anemia NGS Genetic Test?
Is home sample collection available for this test?
What is Fanconi Anemia and how is it related to the XRCC2 gene?
How is Fanconi Anemia inherited?
Can this test detect carriers of the XRCC2 gene mutation?
What happens if the test result is positive for a pathogenic variant?
Is genetic counseling recommended before taking this test?
Does DNA Labs India provide raw data files with the test report?
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