Leukemia

Leukemia is a cancer of the blood and bone marrow in which abnormal white blood cells crowd out healthy cells. Major types include acute (fast-growing) and chronic (slow-growing), and myeloid vs lymphoid leukemias: AML, ALL, CML, and CLL. There are no routine population screening tests for leukemia; abnormalities are usually found after symptoms develop or incidentally on a CBC. Diagnosis relies on specialized blood, bone marrow, flow cytometry, cytogenetic, and molecular tests interpreted by a clinician. 


Signs & Symptoms (When to consider testing)

  • General: persistent fatigue, weakness, fevers/chills, night sweats, unintentional weight loss.

  • Bleeding/bruise risk: frequent nose or gum bleeding, easy bruising, tiny skin spots (petechiae), heavy periods.

  • Infection clues: recurrent or unusual infections, slow wound healing.

  • Bone & organ clues: bone or joint pain, enlarged lymph nodes, spleen, or liver; fullness under left ribs.

  • Lab red flags (often first noticed on a CBC): very high or very low white blood cells, anemia, or low platelets.

If you have fever ≥100.4°F (38°C)severe bleeding, or trouble breathing, seek urgent medical care.


Why These Tests Matter

What leukemia testing can do

  • Document blood count changes and identify blast cells on smear.

  • Define the leukemia type and subtype with flow cytometry (cell markers), chromosome tests (karyotype/FISH), and molecular assays (e.g., BCR-ABL1NPM1FLT3). 

  • Provide prognostic information (e.g., TP53/del(17p) and IGHV status in CLL; ELN 2022 risk categories in AML).

  • Enable disease monitoring, such as BCR-ABL1 quantitative PCR for CML on the International Scale (IS)

What testing cannot do

  • Screen the general population or alone confirm cure—results must be interpreted with your clinician and often require bone marrow evaluation. 


What These Tests Measure (at a glance)

  • CBC with differential & peripheral smear: counts of WBCs, RBCs, platelets; morphology for blasts.

  • Flow cytometry immunophenotyping: cell-surface markers (e.g., CD antigens) to distinguish AML vs ALL vs CLL, etc

  • Cytogenetics & FISH: chromosome changes (e.g., t(9;22) BCR-ABL1 in CML/Ph+ ALLt(15;17) PML-RARAin APL). 

  • Molecular testing:

    • CML/Ph+ disease: BCR-ABL1 PCR (baseline and serial monitoring, reported on IS).

    • AML risk markers: NPM1FLT3-ITD/TKDIDH1/2, others (used for risk stratification per ELN 2022). 

    • CLL risk markers: TP53 mutation or del(17p)IGHV mutation status; common FISH panel (del(13q), trisomy 12, del(11q), del(17p)).

  • Coagulation & metabolism (context): PT/INR, aPTT, fibrinogen, D-dimer (APL-associated coagulopathy risk), LDHuric acidCMP (tumor lysis/organ function). 


How the Testing Process Works

  1. Order targeted labs based on symptoms or abnormal CBC (e.g., repeat CBCperipheral smearflow cytometrypanel).

  2. Specialty testing: clinicians add cytogenetics/FISH and molecular assays from blood and/or bone marrow.

  3. Results post quickly: many initial labs in 24–48 hours; genetic/molecular tests can take longer.

  4. Diagnosis & plan: your clinician integrates results with exam/imaging; some subtypes (e.g., APL) need urgent evaluation due to bleeding risk. 


Interpreting Results (general guidance)

  • Very high/low WBCs, anemia, or thrombocytopenia with blasts → urgent hematology evaluation.

  • CML: baseline BCR-ABL1 level and serial qPCR on IS track response over time. 

  • AML: combinations of mutations (e.g., NPM1FLT3) inform risk groups and monitoring strategy. 

  • CLL: TP53/17p status and IGHV mutation are key prognostic tests that influence management; some people are monitored before treatment. 

  • APL (AML with PML-RARA): high risk of coagulopathy/DIC—clinicians act rapidly and check coagparameters. 

Always interpret leukemia testing with a qualified hematology/oncology professional.


Choosing Panels vs. Individual Tests

  • First look (abnormal CBC or classic symptoms): CBC with differentialperipheral smearflow cytometry.

  • If leukemia suspected/confirmed: add bone marrow with karyotype/FISH and molecular panel tailored to the suspected type (e.g., BCR-ABL1 for CML/Ph+ ALL; NPM1/FLT3/IDH for AML; CLL FISH + TP53/IGHV for CLL).

  • Monitoring (clinician-directed):

    • CML: BCR-ABL1 qPCR (IS) at defined intervals. 

    • ALL/AML/CLL: MRD by flow cytometry/PCR/NGS per protocol.


FAQs

Is there a routine blood test to screen for leukemia?
No. There are no recommended screening tests for the general population. Many cases are found after symptoms or on an incidental CBC.

What’s the difference between acute and chronic leukemia?
Acute leukemias (AML/ALL) grow quickly and need prompt care. Chronic leukemias (CML/CLL) often progress more slowly and may be monitored before treatment—testing defines the subtype. 

Why do I need genetic and chromosome tests?
They confirm the subtype and provide prognosis/monitoring markers (e.g., BCR-ABL1 in CML; NPM1/FLT3 in AML; TP53/IGHV in CLL).

What does “International Scale” mean for CML testing?
It standardizes BCR-ABL1 qPCR results across labs so trends can be compared over time. 

Can leukemia cause bleeding problems?
Yes—low platelets can cause bleeding, and APL carries a particular risk of DIC that clinicians monitor urgently.


Internal Links & Cross-References

  • Cancer Screening Hub

  • Men’s Cancer & Tumor Markers

  • Women’s Cancer & Tumor Markers

  • Multi-Cancer Early Detection (MCED)

  • Key Lab Tests: CBC with Differential • Peripheral Smear • Flow Cytometry (Leukemia/Lymphoma Panel) • Bone Marrow Exam • Cytogenetics/Karyotype • FISH (e.g., BCR-ABL1, PML-RARA) • Molecular Panels (NPM1, FLT3, IDH1/2, TP53, IGHV) • BCR-ABL1 qPCR (IS) • Coagulation Panel • LDH • Uric Acid • CMP

 

References

  1. American Cancer Society. Can CML Be Found Early? Updated 2025.

  2. American Cancer Society. Can CLL Be Found Early? Updated 2025.

  3. American Cancer Society. Can ALL Be Found Early? Updated 2025.

  4. American Cancer Society. Tests for AML. Updated 2025.

  5. NCCN Guidelines for Patients: Acute Myeloid Leukemia. Version 2024.

  6. NCCN Guidelines for Patients: Chronic Lymphocytic Leukemia. Version 2024.

  7. NCCN Guidelines for Patients: Acute Lymphoblastic Leukemia. Version 2025.

  8. White HE et al. Standardization of molecular monitoring of CML; current guidelines specify International Scale reporting for BCR-ABL1. Leukemia. 2022.

  9. Jovanovski A et al. Standardization of BCR-ABL1 p210 monitoring: diagnosis and molecular monitoring review. 2020.

  10. Campo E et al. TP53 aberrations in chronic lymphocytic leukemia. 2018.

  11. Blood (ASH). Diagnosis and management of AML in adults—ELN 2022 genetic risk classification. 2022.

  12. NPM1-mutated AML: molecular and clinical implications; ELN 2022 risk context. 2024–2025.

  13. StatPearls. Acute Promyelocytic Leukemia (PML-RARA) overview and coagulopathy risk. Updated 2023.

  14. Patel R et al. DIC in Acute Promyelocytic Leukemia—hospitalization outcomes. 2024.

  15. NCCN Patients—ALL: diagnostic role of flow cytometry vs blood counts. 2025.


Available Tests & Panels

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The Complete Blood Count with Differential and Platelets Test is a comprehensive blood test that checks red blood cells, white blood cells, hemoglobin, hematocrit, and platelets. The differential analyzes types of white blood cells to detect infections, anemia, clotting abnormalities, immune conditions, and certain cancers. This essential test is often ordered for routine health exams, diagnosis, and monitoring treatment progress.

Blood
Blood Draw
Also Known As: CBC Test, CBC with Differential and Platelets Test, CBC w/Diff and Platelets Test, Full Blood Count Test, Complete Blood Count Test

The CBC with H/H, RBC, Indices, WBC and Platelets Test evaluates overall blood health by measuring hemoglobin, hematocrit, red blood cell count, size and indices, white blood cell levels, and platelets. It helps detect anemia, infections, clotting disorders, and immune or bone marrow conditions. Frequently ordered in routine exams, this test supports diagnosis, monitoring of chronic disease, and assessment of general health.

Blood
Blood Draw
Also Known As: Complete Blood Count Test, Hemogram Test

 The White Blood Cell Count (WBC) test, often referred to simply as a "WBC," measures the total number of white blood cells in a sample of blood. White blood cells, also known as leukocytes, are essential components of the immune system, responsible for protecting the body against infections and other foreign invaders. These cells are produced in the bone marrow and are found throughout the bloodstream and the lymphatic system.
Blood
Blood Draw

The White Blood Cell Count with Differential Test measures total white blood cells and breaks them into types, including neutrophils, lymphocytes, monocytes, eosinophils, and basophils. Doctors order this test to evaluate infections, inflammation, immune disorders, and blood cancers. Abnormal results may suggest bacterial or viral infections, allergies, or leukemia. Results provide key insight into immune system health, disease detection, and treatment monitoring.

Blood
Blood Draw
Also Known As: WBC Test, Leukocyte Test, Leukocyte Differential Test, Blood Differential Test, Diff Test, Peripheral Differential Test

Blood
Blood Draw

The Arsenic Blood Test measures arsenic concentration in blood to evaluate recent exposure and potential toxicity. Arsenic is a naturally occurring element that can be harmful in high amounts, often through contaminated water, food, or occupational settings. Physicians use this test to detect poisoning, assess health risks, and monitor treatment. Results provide essential information for diagnosing and managing arsenic-related health concerns.

Blood
Blood Draw

The Arsenic Micronutrient Blood Test measures arsenic levels in the blood to assess exposure and potential toxicity. Arsenic, a naturally occurring element, can enter the body through contaminated water, food, or occupational sources. Elevated levels may affect the skin, nervous system, and organs. This test helps identify harmful exposure, guide treatment, and support monitoring of overall health and safety.

Patient must be 18 years of age or older.
Blood
Blood Draw
Also Known As: Arsenic Test

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Phlebotomist

The Calcitonin Test measures levels of calcitonin, a hormone produced by the thyroid gland that helps regulate calcium. Elevated levels are often linked to medullary thyroid carcinoma (MTC) or other thyroid disorders, while normal results help rule out disease. Doctors use this blood test to aid in early detection, monitor treatment effectiveness, and track recurrence in patients with thyroid cancer or suspected endocrine abnormalities.

Blood
Blood Draw

Varied
Phlebotomist

The Complement Total CH50 Test measures overall activity of the complement system, a key part of the immune response that helps fight infections and regulate inflammation. Abnormal results may indicate autoimmune diseases such as lupus, complement deficiencies, or immune complex disorders. Doctors use this blood test to evaluate immune function, investigate recurrent infections, and monitor treatment in patients with suspected immune or autoimmune conditions.

Blood
Blood Draw
Also Known As: Total Complement Test, Total Complement Activity Test

Varied
Phlebotomist

The Hemogram Test provides a detailed blood profile including WBC, RBC, hemoglobin, hematocrit, red blood cell indices (MCV, MCH, MCHC, RDW), plus platelets and MPV. It assists in detecting anemia type, infection, hydration status, or bone marrow issues. This test offers insight into oxygen delivery, clotting status, immune function, and systemic wellness.

Blood
Blood Draw

The Hemogram and Differential Test provides a detailed analysis of blood health by measuring red blood cells, white blood cells, hemoglobin, hematocrit, and platelets. The differential count breaks down types of white blood cells, including neutrophils, lymphocytes, monocytes, eosinophils, and basophils. This test helps detect anemia, infections, immune response, clotting disorders, and other hematologic or systemic conditions.

Blood
Blood Draw

The Immunofixation Serum Test identifies abnormal proteins in the blood called monoclonal immunoglobulins, often linked to multiple myeloma, Waldenström macroglobulinemia, or other plasma cell disorders. Physicians use this test to detect, classify, and monitor abnormal antibody production. Results help confirm suspected conditions, assess disease progression, and guide ongoing management of disorders affecting immune system function.

Blood
Blood Draw

The Potassium Plasma Test evaluates potassium concentration in plasma, a key marker of electrolyte status, nerve signaling, and muscle contraction. Low or high levels may reflect kidney dysfunction, adrenal imbalance, dehydration, or acidosis. This test provides insight into cardiovascular function, metabolic health, and systemic conditions affecting electrolyte regulation and overall physiologic balance.

Blood
Blood Draw

The Red Blood Cell Count Test measures the number of red blood cells circulating in the blood, essential for evaluating oxygen transport and overall health. Abnormal levels may indicate anemia, iron deficiency, vitamin B12 or folate deficiency, dehydration, or bone marrow disorders. This test provides critical insight into hematologic health and is often part of a complete blood count to guide further evaluation.

Blood
Blood Draw
Also Known As: RBC Count Test

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Blood Draw

The Thiopurine Metabolites Test evaluates active metabolites of thiopurine drugs, including 6-thioguanine nucleotides and 6-methylmercaptopurine, to assess treatment effectiveness and safety. Elevated or low metabolite levels may indicate risk of toxicity, under-dosing, or non-adherence. This test provides critical insight for managing patients on immunosuppressive therapy, guiding personalized dosing, and monitoring long-term response.

Blood
Blood Draw
Also Known As: 6 MMP Test, 6 Tg Test

The Tryptase Test measures blood levels of tryptase, an enzyme released by mast cells, to evaluate allergic reactions and mast cell disorders. Elevated tryptase may indicate anaphylaxis, mastocytosis, or mast cell activation syndrome (MCAS). Doctors order this test for patients with severe allergic symptoms, unexplained flushing, or anaphylaxis. Results provide essential insight for diagnosing mast cell–related conditions and guiding allergy or immunology treatment.

Blood
Blood Draw
Also Known As: Tryptase Serum Test, Mast Cell Tryptase Test

Most Popular

The Uric Acid Test measures uric acid levels in blood to assess kidney function and detect gout, a form of arthritis caused by uric acid buildup. High levels may also signal kidney disease, kidney stones, or metabolic disorders, while low levels can occur with liver disease. Doctors use this test to investigate joint pain, swelling, or frequent urination, and to monitor treatment for gout, kidney stones, or chemotherapy-related complications.

Blood
Blood Draw
Also Known As: Serum Urate Test

Leukemia is a form of cancer that affects the blood or blood making tissues. Bone marrow is found in the spongy regions of the bones, usually pelvis bones, sternum, vertebrae, and ribs. It is tasked with making early blood-forming cells, white blood cells, platelets, and the precursors of red blood cells. These precursors grow until they mature in the bone marrow and then released into the bloodstream. 

Well, blood cancer develops when the bone marrow forms unusual blood cells, which start to divide out of control. More often than not, this form of cancer affects the white blood cells, but it can affect other types of blood cells too. White blood cells play a significant role in fighting infections in the body, but when leukemia affects them, they become leukemia cells, and they fail to die like normal cells. Instead, they garner and crowd out the normal cells. This includes normal white blood cells, platelets, and red blood cells, as well as their precursors found in the bone marrow. This, as you can expect, leads to an array of problems, including easy bruising and bleeding, failure to get adequate oxygen to body tissues, and an increased risk of infections. 

Leukemia cells, over time, can spread through the bloodstream and blood, sometimes referred to as a liquid tumor. This is where they divide, occasionally forming solid tumors and also doing damage to body organs. Which organs sustain damage depends on the type of blood cancer. For instance, the liver, lymph nodes, and spleen may become swollen and enlarged as a result of the accumulation of the abnormal cells. In other cases, leukemia cells reach the CNS (or central nervous system) and garner in the cerebrospinal fluid. 

In the U.S alone, almost 50,000 people are diagnosed with leukemia each year, and over 23,000 die of the condition. This type of cancer usually affects adults older than 55 years, but it is also the most common form of cancer in teens and children younger than 15. The cause of this condition is not well known, but exposure to cancer-causing chemicals, radiation, and anticancer drugs have been seen to increase the risk of developing it. Some cases are due to rare viral infections and genetic disorders in others. 

Types of Leukemia 

There are several types of blood cancer. Each type is classified based on if it grows rapidly and becomes lethal fast if not treated (this is also referred to as acute blood cancer), or grows gradually (or chronic blood cancer) and also the type of white blood cell that cancer started. 

There are two categories of early blood-forming cells that produce white blood cells (or immature precursors): 

  • Myeloid Precursor Cells: These produce red blood cells and a number of white blood cells called granulocytes. The latter move in the bloodstream fighting infections through killing and digesting the harmful bacteria. 
  • Lymphoid Precursor Cells: These grow and mature into lymphocytes, a kind of white blood cell that can be found in both the lymphatic and blood circulatory system. Their role is to coordinate your body’s immune response, and a huge number of them produce antibodies. 

As such, blood cancer can be classified as Lymphoid or Myeloid. There is another type of cancer that affects the lymphocytes, but it does not occur in the bone marrow, but the lymphatic system instead. It is referred to as lymphoma, and it is diagnosed and treated rather differently. 

The Four Primary Leukemia Categories Are: 

  • ALL (or Acute Lymphocytic Leukemia) – This type of cancer tends to develop from lymphocytes yet to mature. Lymphoid leukemia cells found in acute lymphocytic leukemia are known as leukemic lymphoblasts. This form of cancer can develop quickly, and when not attended to, it can be lethal in just a few months. The cancer cells build up in the blood and bone marrow. Cancer can ideally spread to the lymph nodes and, ultimately, CNS. 

One form of acute lymphocytic leukemia is caused by two chromosome pieces breaking and switching places, referred to as translocation. This leads to an altered, fused gene on chromosome 22, referred to as the Philadelphia chromosome. This gene makes a protein that functions abnormally, leading to the overproduction of immature lymphoid cells. This form of cancer is referred to as Philadelphia chromosome-positive acute lymphocytic leukemia. 

Untreated acute lymphocytic leukemia can result in poor immunity, easy bleeding and bruising as well as anemia. The condition is common in children compared to adults. 

  • CLL (or Chronic Lymphocytic Leukemia) – This form of cancer starts in immature lymphocytes, but the leukemic cells occur in mature lymphocytes. Compared to other forms of leukemia, it grows gradually and doesn’t call for frequent treatment. It can remain stable for years, but there’s a faster-developing form of chronic lymphocytic leukemia that tend s to block normal cell production and calls for treatment. Individuals with this form of cancer have enlarged lymph nodes, known as lymphadenopathy, autoimmunity like autoimmune hemolysis, immunoglobulin deficiencies that result in poor immunity as well as an enlarged spleen. This condition primarily affects older adults. 
  • AML (or Acute Myeloid Leukemia) – This is a rapidly growing form of cancer whereby the immature myeloid cells divide continually in the bone marrow and can replace it with immature and abnormal white blood cells. When this form of cancer is untreated, it can result in poor immunity, infections, anemia, as well as easy bruising and bleeding. AML is usually common in older adults, but it can ideally occur in young adults and kids. Acute promyelocytic leukemia is a subtype example of AML that’s treated differently from other AML forms and usually has better results. 
  • CML (or Chronic Myeloid Leukemia) – This is another slowly-developing form of blood cancer. Individuals with CML usually have no symptoms initially but are usually diagnosed during a routine physical or blood test. When symptoms occur, they tend to be similar to common, less serious conditions and include stomach discomfort due to an enlarged spleen, less energy, pale skin and weight loss that’s unaccounted for. Similar to Philadelphia chromosome-positive acute lymphocytic leukemia, CML is caused by an abnormal gene (BCR/ABL) on chromosome 22. If left unattended, CML can result in poor immunity, anemia, overly enlarged spleen, and excessive bruising and bleeding. The condition is prevalent in adults, with seniors over 65 experiencing a higher risk. CML rarely affects younger adults and children, and it can be treated with drugs known as tyrosine kinase inhibitors. 

The Signs and Symptoms of Leukemia 

Blood cancer signs and symptoms tend to vary depending on the type. The acute type may cause signs and symptoms related to not having adequate normal blood cells.

The signs and symptoms include: 

  • Shortness of breath, pale skin, and weakness due to anemia (a lack of red blood cells). 
  • Fever & infections as a result of inadequate infection-fighting white blood cells. 
  • Bruising and bleeding as a result of a lack of platelets. 

Other signs & symptoms may include headaches, vomiting, seizure and confusion, joint and bone pain, night sweats, unexplained weight loss, and enlarged spleen, kidneys, lymph nodes, and/or testicles. 

Chronic leukemia, as mentioned earlier, grows gradually, and so, it may not have early signs and symptoms. It may, however, cause milder forms of the symptoms prevalent in acute blood cancer. Chronic leukemia can be found by chance during routine checkups before even any symptoms are visible. Some cases may need to be monitored for several years before treatment is needed, while others can be more aggressive. If the cancer cells start to divide more rapidly, they can lead to a blast crisis or progression to acute leukemia. This results in the production of just immature cells and worsening the condition.

Symptoms of chronic leukemia include: 

  • Feeling rundown or tired 
  • Loss of appetite and unexplained weight loss 
  • Breath shortness during normal activity 
  • Discomfort or pain in the upper left side of the stomach. Usually caused by an enlarged spleen. 
  • Pale skin 
  • Fever 
  • Bruising and bleeding easily 
  • Night sweats 

Leukemia Lab Tests 

There are several lab tests that can be used to diagnose blood cancer, determine the type as well as monitor the treatment’s effectiveness. After an effective treatment or remission, testing can also be done to check whether cancer has returned. 

The General Blood Tests Include: 

CBC (or Complete Blood Count) & WBC Differential 

These are routine tests that assess the cells circulating in the bloodstream. They count the number of cells and check the maturity as well as the proportion of the varying cells. These blood tests can give the initial indication of blood cancer. Abnormal results, like a reduced number of red blood cells and increased white blood cell count, can be as a result of leukemia but an array of chronic or temporary conditions. However, immature blood cell precursors or blasts are usually not seen in blood, and so, if present, leukemia is most likely present, and a follow-up test will be ordered. The CBC and WBC differential tests are ideally essential in monitoring the effectiveness of treatment and also the detection of recurrence. 

Bone Marrow Aspiration or Biopsy 

If leukemia is suspected, a bone marrow aspiration, biopsy, or both can be conducted in order to take a closer look at the marrow tissues. A specialist (pathologist) examines the sample using a microscope and evaluates the size, appearance, shape, and number of each cell type and also the proportion of mature and immature blood cells. If blood cancer is present, the next step is to determine the type and severity of the condition. This test ideally helps set a baseline for the bone marrow cells, with an attempt to see how well they respond to treatments. 

Some select tests usually include: 

  • Lumbar Puncture (or Spinal Tap) & Cerebrospinal Fluid Analysis – If blood cancer is detected in the bone marrow, a spinal tap can be done in order to help determine if cancer has spread to the cerebrospinal fluid and CNS. If cancer cells are found in the cerebrospinal fluid, additional treatment such as direct injection of a drug into the CSF may be needed. 
  • Phenotyping or Immunophenotyping by Cytometry Flow – This is a test that can help detect leukemia and also the type. 
  • Chromosome Analysis or Karyotyping – This is a cytogenetic test used to map the 46 chromosomes in cells, with the aim of detecting changes in size, number, or arrangements associated with leukemia. 
  • Molecular Testing – The malfunction of cells that control cell growth and development is one of the factors that lead to uncontrolled cancer cell growth. The malfunctions can stem from DNA abnormalities, like mutations. Laboratory tests detect the abnormalities related to some types of blood cancer. These can help guide treatment and determine the cause of the condition and even assess the effectiveness of the treatment. 

Fluorescent In Situ Hybridization 

This is another cytogenetic test that looks for alterations in chromosomes resulting from genetic variations. This test is more sensitive than chromosome analysis. An abnormal gene segment in this test is made to fluoresce or light up when bound by a particular probe. The test helps diagnose varying types of blood cancer that look similar but have