Bone Marrow Failure Syndrome Test
Short Name: BMFS Panel
Also known as: BMFS Genetic Panel, Bone Marrow Failure Gene Panel, Inherited Bone Marrow Failure Syndrome Test, Aplastic Anaemia Genetic Test, Fanconi Anaemia Gene Panel
Bone Marrow Failure Syndrome Test test available at DNA Labs India for ₹36,000. Uses Next Generation Sequencing (NGS), Bioinformatic Analysis, Variant Classification (ACMG Guidelines) on Peripheral Blood samples. Results in 4-6 weeks from the date of sample collection. 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 Bone Marrow Failure Syndrome genetic test is to identify inherited genetic mutations responsible for impaired blood cell production in the bone marrow. This test aids in confirming a clinical diagnosis, differentiating between inherited and acquired causes of bone marrow failure, guiding treatment decisions including the need for stem cell transplantation, enabling genetic counselling for families, and facilitating carrier screening and prenatal testing for at-risk family members.
- Test Code
- 2958
- CPT Code
- 81479
- ICD Code
- D61.9
- Price
- ₹36,000
- Sample Type
- Peripheral Blood
- Result Time
- 4-6 weeks from the date of sample collection
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Bioinformatic Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
No fasting is required. A doctor's prescription is recommended. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad. Inform the phlebotomist about any recent blood transfusions or ongoing medications.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample of 2 ml will be collected via venipuncture into an EDTA vacutainer. The procedure typically takes 5 to 10 minutes and is similar to a routine blood draw.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball for 3 to 5 minutes. Avoid heavy lifting with the affected arm for a few hours. No specific post-collection restrictions are required.
Timeline: 4-6 weeks from the date of sample collection
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Bone Marrow Failure Syndrome genetic test is to identify inherited genetic mutations responsible for impaired blood cell production in the bone marrow. This test aids in confirming a clinical diagnosis, differentiating between inherited and acquired causes of bone marrow failure, guiding treatment decisions including the need for stem cell transplantation, enabling genetic counselling for families, and facilitating carrier screening and prenatal testing for at-risk family members.
How to Prepare
- No fasting required before sample collection
- Carry a valid doctor's prescription or referral
- Inform the collection team about any recent blood transfusions within the past 4 weeks
- Provide complete clinical and family history information as requested
- Ensure the sample is collected in the provided EDTA vacutainer and transported with the cool pack provided
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Bone marrow failure syndromes encompass a heterogeneous group of inherited and acquired disorders that impair the bone marrow's ability to produce adequate blood cells. Early genetic diagnosis through NGS-based panels is critical for guiding treatment decisions, assessing family members at risk, and determining eligibility for curative therapies such as haematopoietic stem cell transplantation. I recommend this test for any patient presenting with unexplained cytopenias, especially in paediatric or young adult populations where inherited causes are more prevalent."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in incorrect anticoagulant (non-EDTA tube)
- Haemolysed or clotted sample
- Insufficient sample volume (less than 1 ml)
- Sample received without proper labelling or requisition form
- Sample older than 72 hours from time of collection
Understanding Your Results
One or more pathogenic or likely pathogenic variants were identified in a gene associated with bone marrow failure syndrome. This confirms a genetic diagnosis and should be correlated with clinical findings. Genetic counselling and family screening are strongly recommended.
Result type: Pathogenic Variant Detected
A genetic variant was identified whose clinical significance is currently unknown. Further evaluation, including family segregation analysis and functional studies, may be needed. Clinical correlation is essential.
Result type: Variant of Uncertain Significance (VUS)
No pathogenic or likely pathogenic variants were identified in the genes tested. This does not completely exclude a genetic cause of bone marrow failure, as novel genes or variants outside the panel coverage may be responsible. Clinical follow-up and additional testing may be warranted.
Result type: No Pathogenic Variant Detected
A heterozygous pathogenic variant was identified in a gene associated with autosomal recessive bone marrow failure syndrome. The individual is a carrier and may not show symptoms but can pass the variant to offspring. Partner testing and genetic counselling are recommended.
Result type: Carrier Status Identified
Consult a haematologist or clinical geneticist if you or your child experience unexplained fatigue, frequent infections, easy bruising or bleeding, pallor, or shortness of breath. If a family member has been diagnosed with a bone marrow failure syndrome, genetic counselling and testing should be sought. Early consultation is critical for timely diagnosis and treatment planning.
Limitations
- ⚠This test does not detect large genomic rearrangements or deep intronic variants unless specifically included in the panel design
- ⚠Variants of uncertain significance (VUS) may be identified and may require further evaluation or family studies
- ⚠Acquired causes of bone marrow failure such as paroxysmal nocturnal haemoglobinuria (PNH) or myelodysplastic syndromes may not be fully captured by this germline genetic panel
- ⚠A negative result does not completely exclude a genetic cause, as novel or as-yet-unidentified genes may be involved
- ⚠This test analyses germline DNA and does not detect somatic mutations acquired during disease progression
Risks & Considerations
- ●Minimal risk associated with blood draw: minor bruising, slight pain at the puncture site, or very rare infection
- ●Psychological impact of genetic diagnosis, including anxiety about prognosis and family implications
- ●Identification of variants of uncertain significance (VUS) may cause confusion or concern without proper genetic counselling
Interfering Factors
- ●Recent blood transfusion may affect DNA quality and variant detection in certain cases
- ●Concurrent chemotherapy or immunosuppressive therapy may impact sample integrity
- ●Sample haemolysis or improper storage may compromise DNA extraction
- ●Mosaicism in some Fanconi anaemia cases may lead to false-negative results if variant allele frequency is very low
Compare With Similar Tests
| Test | Bone Marrow Failure Syndrome | Complete Blood Count (CBC) | Bone Marrow Biopsy | Chromosomal Breakage Study (DEB/MMC Test) | Telomere Length Testing |
|---|---|---|---|---|---|
| Comparison | Bone Marrow Failure Syndrome | CBC is a basic screening test that measures blood cell counts and can detect cytopenias but cannot identify the underlying genetic cause. The BMFS genetic test provides a definitive molecular diagnosis. | Bone marrow biopsy evaluates the cellular composition and morphology of the marrow. It can show hypocellularity or dysplasia but does not identify specific genetic mutations. The BMFS genetic test complements biopsy findings with molecular-level diagnosis. | The DEB/MMC test is a functional assay specifically for Fanconi anaemia. The BMFS genetic panel covers a broader range of inherited bone marrow failure syndromes and identifies the specific gene and variant involved. | Telomere length testing can suggest telomere biology disorders such as dyskeratosis congenita but does not identify the specific gene mutation. The BMFS genetic test provides precise molecular identification of causative variants. |
Frequently Asked Questions
What is Bone Marrow Failure Syndrome?
What does the Bone Marrow Failure Syndrome genetic test detect?
Who should get the Bone Marrow Failure Syndrome genetic test?
What sample is required for this test?
How long does it take to get the results?
What is the cost of the Bone Marrow Failure Syndrome genetic test in India?
Is fasting required before the test?
Is a doctor's prescription required for this test?
What does a negative test result mean?
Can this test detect acquired bone marrow failure conditions like aplastic anaemia or PNH?
Is home sample collection available for this test?
What should I do if a pathogenic variant is detected?
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