Pathology

Pathology

Pathology is the study of disease, its causes and progression. Nearly every patient in the NHS has had dealings with pathology services at some point. Every time you give a blood, stool, urine or tissue sample, it is analysed by a pathologist or pathology scientist known as a biomedical or clinical scientist, depending on their skills and qualifications.

Pathologists look for abnormalities within samples, but quite often these tests are performed to confirm everything is okay. Through preventative screenings, tests can help with the early detection of potentially fatal conditions.

Pathology also plays a major role in research, such as finding treatments for cancer and inherited conditions, developing vaccines against infectious diseases, or ensuring that blood transfusions are safe.

We are a specialist unit for musculoskeletal pathology including bone and soft tissue tumours, joint disease and metabolic bone disease. Other pathology tests are performed at other specialist laboratories at University Hospitals Birmingham NHS Foundation Trust.

Common Procedures

  • Molecular Pathology

    ASPSCR1-TFE3 RT-PCR)

    BCOR-CCNB3 (RT-PCR)

    C-MYC gene amplification (FISH)

    CIC gene rearrangement (FISH)

    DDIT3 (CHOP) gene rearrangement (FISH)

    ETV6-NTRK3 (RT-PCR)
    EWSR1 gene rearrangement (FISH)
    EWSR1-ATF1 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3 (RT-PCR)
    EWSR1-NR4A3 type 1, EWSR1-NR4A3 type 2, EWSR1-NR4A3 type 3 (RT-PCR)
    EWSR1-CREB1 
(RT-PCR)

    EWSR1-CREB3L1 / EWSR1-CREB3L2 (RT-PCR)

    EWSR1-CREM (RT-PCR)

    EWSR1-ERG (RT-PCR)
    EWSR1-FLI1 type1 / EWSR1-FLI1 type 2 /EWSR1-FLI1 type 3 / other rare EWSR1-FLI1 variants (RT-PCR)
    EWSR1-WT1 (RT-PCR)

    FUS gene rearrangement (FISH)
    FUS-CREB3L2/ FUS-CREB3L1 (RT-PCR)
    FUS-DDIT3 (RT-PCR)

    HEY1-NCOA2 fusion gene (RT-PCR)

    JAZF1-SUZ12 (RT-PCR)

    JAZF1 gene rearrangement (FISH)
    MDM2 gene amplification (FISH)

    NAB2-STAT6 (RT-PCR)

    NR4A3 gene rearrangement (FISH)
    PAX 3-FOXO1 ( RT-PCR)
    PAX 7-FOXO1 ( RT-PCR)
    SS18 gene rearrangement (FISH)
    SS18-SSX1 and SS18-SSX2
(RT-PCR)
    TAF2N-NR4A3 (RT-PCR)
    USP6 gene rearrangement (FISH)

    YWHAE-NUTM2 (RT-PCR)

  • List of test provided by diagnosis

    Alveolar rhabdomyosarcoma: FOXO1 gene rearrangement (FISH), PAX 3-FOXO1, PAX 7-FOXO1
(FISH and RT-PCR)

    Alveolar soft part sarcoma: ASPSCR1-TFE3 (RT-PCR)
    Aneurysmal bone cyst: USP6 gene rearrangement (FISH)
    Angiomatoid fibrous histiocytoma: EWSR1 gene rearrangement (FISH), EWSR1-CREB1 and EWSR1-ATF1
(RT-PCR)
    Angiosarcoma, radiation-induced: C-MYC gene amplification (FISH)
    Atypical lipomatous tumour/well differentiated liposarcoma/dedifferentiated liposarcoma:MDM2 gene amplification (FISH)
    Clear cell sarcoma: EWSR1 gene rearrangement (FISH), EWSR1-ATF1 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3, AND EWSR1-CREB1 (RT-PCR)

    Desmoplastic small round cell tumour: EWSR1 gene rearrangement (FISH), EWSR1-WT1 (RT-PCR)
    Extraskeletal myxoid chondrosarcomas: EWSR1 gene rearrangement (FISH) NR4A3 gene rearrangement (FISH), EWSR1-NR4A3 type 1, EWSR1-NR4A3 type 2, EWSR1-NR4A3 type 3, TAF2N-NR4A3 (RT-PCR)
    Ewing sarcoma: EWSR1 gene rearrangement (FISH), EWSR1-FLI1 type1, EWSR1-FLI1 type 2, EWSR1-FLI1 Type 3, EWSR1-ERG and rare variants (RT-PCR)

    Ewing-like sarcoma: BCOR-CCNB3 (RT-PCR), CIC gene rearrangement (FISH), CIC-DUX4 (RT-PCR)

    Haemangiopericytoma: NAB2-STAT6 (RT-PCR)

    High-grade endometrial stromal sarcoma: YWHAE-NUTM2 and other rare variants (RT-PCR)

    Intimal sarcoma: MDM2 gene amplification (FISH)

    Low-grade endometrial stromal sarcoma: JAZF1 gene rearrangement (FISH), JAZF1-SUZ12 (RT-PCR)

    Low-grade fibromyxoid sarcoma/sclerosing epithelioid fibrosarcoma: FUS gene rearrangement (FISH), EWSR1 gene rearrangement, FUS-CREB3L2, FUS-CREB3L1, EWSR1-CREB3L1, EWSR1-CREB3L2(RT-PCR)

    Low-grade central osteosarcoma: MDM2 gene amplification (FISH)

    Mesenchymal chondrosarcoma: HEY1-NCOA2 fusion gene (RT-PCR)

    Myxoid liposarcoma: FUS gene rearrangement (FISH), EWSR1 gene rearrangement, DDIT3 (CHOP) gene rearrangement (FISH), FUS-DDIT3, EWSR1-DDIT3 (RT-PCR
    Nodular fasciitis: USP6 gene rearrangement (FISH),

    Solitary fibrous tumour: NAB2-STAT6

    Paraosteal osteosarcoma: MDM2 gene amplification (FISH)
    Synovial sarcoma: SS18 gene rearrangement (FISH), SS18-SSX1 SS18-SSX2
(RT-PCR)

  • Immunohistochemistry

    The immunohistochemistry service offers a number of sarcoma specific immuno markers as well as routinely used markers. All tests are performed on an automated Roche Ultra machine. We also offer a number of immunohistochemistry markers for research purposes only.

Contact Us

By post:

Department of Musculoskeletal Pathology
The Royal Orthopaedic Hospital NHS Foundation Trust
Robert Aitken Institute for Clinical Research (Level 3)
University of Birmingham
Birmingham
B15 2TT

User feedback is important to us. Please complete the User Survey and either post to the address above, or e-mail it directly to Dr Graham Caine (Pathology Manager) at This email address is being protected from spambots. You need JavaScript enabled to view it.

More Information

  • Sending us a case

    The Department of Musculoskeletal Pathology is based at the University of Birmingham, and processes all of the Royal Orthopaedic Hospital NHS Foundation Trust’s histopathology cases.

  • How to send us a case

    We offer a full range of diagnostic testing. Click here to see the full range of Immunohistochemistry and Pathology tests we offer. Sending us a case is easy. Simply fill out our form including clinical information, imaging, slides and two representative blocks, then post to:

    Department of Musculoskeletal Pathology
    The Royal Orthopaedic Hospital NHS Foundation Trust
    Robert Aitken Institute for Clinical Research (Level 3)
    University of Birmingham
    Birmingham
    B15 2TT

    You can access our Laboratory Manual here.

    You can access the Quality Manual here

  • Turn-around times

    We aim to process as quickly as possible. 90% of all our biopsies are reported in under seven days and that 90% of all diagnostic specimens are reported in under 10 days. We deal with approximately 4000 cases per year, which are a mixture of Trust cases, private referrals and opinion cases. 

Frequently Asked Questions (FAQs)

  • What are Pathology tests used for?

    Screening for disease. The aim of screening is to pick up a disease in the early stages so it can be treated or prevented before the person is even aware they have it, or before it develops into something more serious. Screening is used for various reasons. It can help with the early detection of conditions such as cancer, or help determine the chances of carrying inherited or genetic diseases.

    Diagnosing a condition. Diagnosing an illness isn't always straightforward. Some conditions have similar symptoms and pathology tests to help with the diagnosis and appropriate treatment.

    Giving a prognosis of an illness. For serious conditions like cancer, it's important to determine what stage the cancer has reached to give an indication of severity, treatment choices and, in cases of a terminal disease, the most appropriate palliative care.

    Monitoring. Pathology tests can help your doctor monitor the progression of a condition and determine whether it's getting better or worse.

  • What happens to my sample?

    When a sample is taken at the Royal Orthopaedic Hospital, it is passed to our pathology specimen transport, which takes it to the appropriate laboratory. Your sample will then be processed by the laboratory.  

    Sometimes samples have to be sent to more than one speciality laboratory. How the sample is stored depends on the type – some samples need to be kept frozen at all times, some need to be delivered within the hour or in special containers if there is a risk of infection, while others can be sent by post. You can always check with your doctor to find out more about how your sample reaches a pathology laboratory.

    As soon as your specimen arrives in pathology, it is assigned a pathology number so laboratory staff can keep track of it. This also allows your tests to remain anonymous.

    How your sample is handled by pathologists and scientists depends on the type of tests being done and on the sample.

  • How long does it take to get my results?

    This depends on the type of test that needs to be done. More than 90% of samples arriving at biochemistry and haematology labs will be reported on the same day. There is a very high use of automation and robotics within these specialities.

    Other samples require more time and resources, such as when tissue needs to be examined under the microscope. This can take several days, depending on the tests that need to be done, the availability of scientist and pathologist staff, and the workload of the histopathology department. Similarly, if a sample needs to be cultured (growing bacteria in petri dishes), a result cannot be reported until the culture has had time to grow and be identified.

    Other reasons why you may have to wait longer for your results include:

    • the sheer complexity of the test requires considerable time
    • samples for that type of test are received less frequently and are stored so they can be analysed in a batch for both quality and economic reasons
    • the test needs to be sent on to a highly specialised laboratory
  • How do I know my lab has given the right answers

    We make considerable efforts to ensure our results are correct. Like other industries, we undertake quality control measures and compare our results both internally and with other laboratories undertaking the same type of test.

    This latter process is called external quality assurance (EQA). Most EQA is organised on a national basis, so laboratories can compare their results with others – up to about 200 for some tests – and with laboratories using the same test methods and equipment. If a laboratory performs poorly, the EQA process will include contacting the laboratory, identifying the problem, and helping them overcome any issues. If this fails to generate improvements, the organiser will report the matter to the Royal College of Pathologists for them to take action.

  • How are pathology labs regulated?

    The system of Clinical Pathology Accreditation is run by the UK Accreditation Service (UKAS) and inspects laboratories on a regular basis. This is a very thorough review of the processes in each pathology discipline undertaken by that laboratory, and is done to international standards (ISO 15189 Medical Laboratories). This approach applies to all laboratories, whether they are part of the NHS or private.

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