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Bone marrow report

Cytogenetics, FISH and — Molecular Tests on Your Marrow

Three tests run on your bone marrow cells after a biopsy — a karyotype, FISH, and a molecular panel. Together, they tell your haematologist which subtype of blood cancer you have, which risk group applies, and which treatment to recommend.

Medically reviewed by Dr. T. Raghavender Reddy, Medical Oncologist, MBBS · DM (Medical Oncology) · MD (Radiation Oncology) · Last reviewed September 2026

  • Three tests, three timescales — Karyotype, FISH and molecular sequencing each examine a different layer of your cancer's biology, and each takes a different amount of time to return.
  • They define the diagnosis precisely — In many blood cancers, the chromosome finding is what specifies the exact subtype — not just the cancer's name, but its precise molecular identity.
  • They directly change treatment — A specific chromosomal change or gene mutation can shift the entire treatment approach, or make one drug appropriate where another would not be.
  • The wait is part of the test — Cells must divide in a laboratory before chromosomes can be read. A wait of two to three weeks is not a delay — it is how the test works.
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Cytogenetics, FISH and molecular tests examine the chromosomes and genes inside your cancer cells. They identify which subtype of blood cancer you have, assign a risk category, and guide your haematologist's treatment choice. Per NCCN and WHO guidance, these results are required before treatment decisions are finalised in most blood cancers.

What do cytogenetics, FISH and molecular tests look for?

Each test examines your cancer at a different depth.

A karyotype looks at all your chromosomes at once — it is a picture of their structure, laid out in numbered pairs. It finds large changes: a chromosome that has broken, a piece that has moved to the wrong partner, or a chromosome that has been lost or duplicated entirely. Some of these findings are how specific blood cancers are defined.

FISH uses fluorescent probes designed to light up one specific section of DNA. It is faster than a karyotype and more precise for the abnormality it is looking for — but it only finds what it was designed to find.

A molecular panel reads the code within individual genes. It finds mutations — small changes in the DNA sequence — that are invisible to the other two tests. These mutations can affect which treatment is most likely to work.

What the terms in your report mean

Karyotype
A picture of all 46 chromosomes, arranged in numbered pairs. The laboratory looks for chromosomes that have broken, swapped segments with another, or disappeared entirely.
FISH
Fluorescence In Situ Hybridisation. A targeted test that uses fluorescent probes to confirm or rule out one specific chromosomal abnormality. Faster than a karyotype, but designed for a single target.
Molecular panel
A gene-sequencing test that reads the code inside individual genes, looking for mutations too small for a karyotype or FISH to detect.
Translocation
When a segment of one chromosome breaks off and attaches to another. In several blood cancers, a translocation is not just a finding — it is the defining feature of the diagnosis.
Risk stratification
The process of placing your cytogenetic and molecular results into a category — typically favourable, intermediate or adverse — that guides how intensively you are treated.

Why do these results take two to three weeks?

Each test runs on a different timeline, for a different reason.

FISH is usually the fastest, often returning within a few days. The laboratory applies a targeted probe directly to the cells and reads the result without needing them to divide first.

A karyotype takes longer because the cells must be kept alive in a culture and allowed to divide naturally. Chromosomes are only readable when a cell is actively dividing. If the culture grows slowly or fails, the laboratory repeats it.

Molecular sequencing takes the most time. Reading and interpreting the full sequence of targeted genes is technically demanding, and the sample is often sent to a specialist reference laboratory. A wait of two to three weeks from sample collection is typical, and is not a sign of anything wrong.

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Questions to ask when your results arrive

  • Ask which risk category your results place you in, and what that means for your treatment plan.
  • Ask whether all three tests — karyotype, FISH and molecular panel — are complete, or whether any are still pending.
  • Ask whether any finding changes the choice of treatment or the approach your haematologist is recommending.
  • Ask whether treatment will begin before all results are back, or whether your team is waiting for the full picture.
  • Ask whether these tests will be repeated after treatment starts, and what they will be measuring at that point.
  • Ask for a written copy of your report and keep it — these findings can matter again if your situation changes.

Do these results actually change what treatment you receive?

Yes — and this is what sets them apart from most other tests in your workup.

Your haematologist uses the combined results to assign a risk category. That category influences which treatment protocol is recommended, how intensive it will be, and whether a stem cell transplant should be planned from the outset.

For some blood cancers, a specific chromosomal finding or gene mutation changes the treatment entirely — directing the team towards a targeted approach rather than standard chemotherapy. The European LeukemiaNet, NCCN and WHO all include cytogenetic and molecular findings as required elements of treatment planning in most blood cancers.

Your results are not background information. They are the foundation of the plan.

Did you know?

In several blood cancers, the chromosomal translocation found at diagnosis is not just associated with the disease — it is the disease.

The WHO Classification of Haematopoietic and Lymphoid Tumours uses chromosomal and molecular findings as defining criteria for specific subtypes, meaning two patients with the same general diagnosis label can have entirely different diseases at the molecular level — and need different treatments.

Source: WHO Classification of Tumours: Haematopoietic and Lymphoid Tumours, 5th edition (2022)

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Common questions

Frequently asked questions

What is the difference between karyotype, FISH and molecular testing?

They examine the same cancer at three different levels of detail. A karyotype looks at the overall structure of all your chromosomes, finding large changes. FISH targets one specific, known abnormality and confirms or rules it out. A molecular panel reads the code within individual genes, finding mutations too small for the other tests to detect. All three give different information, and they are usually ordered together rather than as alternatives to each other.

My FISH result is back but the karyotype is still pending — is something wrong?

No, this is entirely normal. FISH does not require the cells to grow first, so it returns in days. A karyotype requires the laboratory to culture live cells and wait for them to divide, which takes longer. Both are part of the same standard workup, and receiving FISH before the karyotype is expected, not a sign of an error or a problem with your sample.

My report says 'adverse cytogenetics' — what does that mean for me?

Risk categories — favourable, intermediate and adverse — are assigned based on which chromosomal changes or mutations are present. Adverse means the findings are associated with a higher risk that the cancer will be harder to treat or more likely to return. It does not mean untreatable. It means your haematologist will plan a more intensive approach from the outset — which is precisely why these results are needed before treatment begins.

Will these tests be repeated after treatment starts?

Often, yes. After initial treatment, the laboratory can look for the same abnormality found at diagnosis and measure whether it is still detectable. This is called minimal residual disease testing. A result that clears — meaning the abnormality is no longer found — is an important treatment milestone. Whether repeat testing applies to your situation depends on your diagnosis, and your haematologist will explain what to expect and when.

A normal karyotype sounds like good news — is that the whole picture?

A normal karyotype is a genuinely favourable finding in many blood cancers, but it is one of three layers of testing. Gene mutations can be present even when the chromosomes appear structurally intact under the microscope. 'Normal karyotype' means one layer came back without large abnormalities — not that all results are clear. Your haematologist will interpret it alongside the FISH and molecular results before reaching any conclusions.

Who explains these results to us, and when?

Your treating haematologist interprets the results and will explain what they mean for your treatment at your next appointment. The written report uses technical language that requires clinical context to make sense of. You are entitled to ask for a copy and to have the findings explained in plain terms. If the results are complex and you would like a second opinion on their interpretation, that is a reasonable request — your team can advise on how to arrange one.

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