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USA: Diagnostics

In the USA, leukaemia diagnosis starts with a blood test and is confirmed with bone marrow tests, immunophenotyping and broad genetic testing.

Last updated: ~1 min read
On a dark navy background, laboratory machines.
Figure 1.Analysers — USA: Diagnostics

01Short answer

A complete blood count and smear raise suspicion. The diagnosis is confirmed by bone marrow aspiration and biopsy, flow cytometry (immunophenotype), karyotype, FISH and molecular tests (for example broad gene panels). NCCN guidelines list which tests are needed for each type of leukaemia. Some genetic tests may need prior authorization from your insurer, so check with your team.

02Simple explanation

Blood test: the first step.

Bone marrow: confirmation.

Genetics: guides treatment.

03Scientific explanation

Guidelines: NCCN patient guides explain the tests for each type in plain language.

Laboratory: US laboratories must meet federal quality standards (CLIA).

04What happens in the body?

Blood test

A complete blood count and smear; if abnormal cells appear, you are referred to a specialist.

Bone marrow

A sample is taken from the hip bone under local anaesthetic.

On a dark navy background, a bone marrow slide.
Figure 2.Microscope — USA: Diagnostics

Genetic tests

Results sometimes take 1 to 3 weeks and define the risk group and targeted medicines.

On a dark navy background, DNA ribbons.
Figure 3.Gene panel — USA: Diagnostics

05The road to diagnosis

Four steps.

Blood — Complete blood count.1BloodComplete blood count.
Bone marrow — Aspiration and biopsy.2Bone marrowAspiration and biopsy.
Genetics — Panel and FISH.3GeneticsPanel and FISH.
Talk — Explaining the results.4TalkExplaining the results.
Exact diagnosisType and risk are known.
TargetA matching medicine is chosen.

06Key points at a glance

TopicIn brief
Blood testA complete blood count and smear; if abnormal cells appear, you are referred to a specialist.
Bone marrowA sample is taken from the hip bone under local anaesthetic.
Genetic testsResults sometimes take 1 to 3 weeks and define the risk group and targeted medicines.

07Key terms

CBC
Complete blood count.
Flow cytometry
Measuring cell surface markers.
NGS panel
A broad gene test.
CLIA
Laboratory quality standard.

08Key points

  • Ask for copies of results.
  • Write down the test names.
  • Ask about insurance approval.
  • Find out when genetics will be ready.
  • Prepare your questions.

09Frequently asked questions

Can I see my results online?

Many centres have a “patient portal”; results sometimes appear before you talk to your doctor.

Does insurance pay for genetic tests?

Often, but approval is sometimes needed; your team will check.

Is a second pathology opinion possible?

Yes, slides can be sent to another centre.

10Questions for your doctor

Take these questions to your appointment. The ones you save are collected on the “My questions” page and stay on this device only.

  1. Can I see my results online?

  2. Does insurance pay for genetic tests?

  3. Is a second pathology opinion possible?

My questions

12Sources

  1. National Cancer Institute (NCI). Questions to Ask Your Doctor about Your Diagnosis
  2. American Cancer Society. Tests for Acute Myeloid Leukemia (AML)
  3. MedlinePlus (U.S. National Library of Medicine). Bone marrow aspiration
  4. MedlinePlus (U.S. National Library of Medicine). Flow cytometry
  5. National Comprehensive Cancer Network (NCCN). NCCN Guidelines for Patients
  6. Government of India. e-Visa (including e-Medical and e-Medical Attendant visas)
  7. UT MD Anderson Cancer Center. Stem Cell Transplantation and Cellular Therapy Center
  8. UT MD Anderson Cancer Center. International Center: frequently asked questions
  9. Fred Hutch Cancer Center. International patients
  10. World Health Organization (WHO). WHO Model Lists of Essential Medicines
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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