BLOOD MALIGNANCIES GENOMIC RISK ASSESSMENT

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SERVICE DESCRIPTION

SERVICE DESCRIPTION

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    ACUTE LYMPHOCYTIC LEUKEMIA

    What Is Acute Lymphocytic Leukemia?

    • Leukaemia is a cancer of the white blood cells known as lymphocytes. Bone marrow is spongy tissue in the middle of the bones. White blood cells form and develop in the marrow and then move into the bloodstream. Leukaemia can be divided into acute and chronic types. Acute leukaemia affects cells in bone marrow before they fully develop. Chronic leukaemia affects fully grown cells. The four subcategories are acute lymphocytic leukaemia (ALL), acute myelogenous leukaemia (AML), chronic lymphocytic leukaemia (CLL), and chronic myelogenous leukaemia (CML).
    • ALL prevents the body from making normal blood cells and causes the production of abnormal young, immature white blood cells. Normal white blood cells help fight infection, whereas leukemic cells are ineffective. ALL cells come from white blood cells called B cells or T cells. ALL usually occurs in children, especially boys, younger than 15. It is the most common cancer in children. Adults can also have ALL.

    What Causes ALL?

    • The cause is unknown, and ALL can’t be prevented.

    What Are the Symptoms of ALL?

    • Symptoms include low fever, tiredness, increasing paleness, feeling sick, easy bruising and bleeding, enlarged spleen, pain in the belly (abdomen), frequent infections, and headache. Swollen glands enlarged liver and spleen, and confusion can occur.

    How Is ALL Diagnosed?

    • The doctor examines the blood and performs a bone marrow biopsy. The biopsy involves removing marrow from the bone and examining it under a microscope. Lymphocytic cells are examined for the presence of abnormalities to their chromosomes (cytogenetic analysis). The doctor will also check to see whether B or T cells are involved (immunophenotyping). The doctor also tests spinal fluid and may order a chest x-ray, CT (computed tomography) scan, and ultrasound.

    How Is ALL Treated?

    • ALL can be cured; chemotherapy (anticancer drugs) is the main reason for better survival. At first, hospitalisation is needed for blood transfusions, chemotherapy, and radiation.
    • Treatment usually involves four steps. The first two (using drugs for induction and consolidation) also remove normal blood cells, which can lead to serious complications.
    • After complete remission, the third step is radiation of the brain and chemotherapy, to get rid of leukaemia cells.
    • Maintenance therapy uses drugs to prevent the return of leukaemia.
    • The doctor may consider bone marrow transplantation, also called stem cell transplantation. Healthy marrow containing stem cells (the source of all blood cells) is given, and stem cells produce new healthy cells to replace abnormal ones.
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    ACUTE MYELOGENOUS LEUKEMIA

    What Is Acute Myelogenous Leukemia?

    • Leukaemia is a cancer of the white blood cells. It originates in the bone marrow. Bone marrow is spongy tissue in the middle of the bones. Blood cells form and develop in the marrow and then move into the bloodstream. Leukaemia can be acute and chronic. Acute leukaemia affects white blood cells in the bone marrow before they fully develop. Chronic leukaemia affects fully grown cells. The four subcategories are acute myelogenous leukaemia (AML), also known as acute myeloid leukaemia, acute lymphocytic leukaemia (ALL), chronic lymphocytic leukaemia (CLL), and chronic myelogenous leukaemia (CML). AML, the most common leukaemia in adults, affects one type of white blood cells (these cells help fight infection).

    What Causes AML?

    • The cause is unknown. An increased risk of developing AML occurs after exposure to high doses of radiation, the chemical benzene, and drugs used to treat cancers and in people with certain genetic disorders. No effective way to prevent AML is known.

    What Are the Symptoms of AML?

    • Common symptoms include paleness, weakness, shortness of breath, weight loss, and discomfort in the belly (abdomen). Tiredness, easy bleeding, bruising, and frequent infections result from fewer red blood cells (anaemia), white blood cells, and platelets. Too many young and immature (poorly developed) white cells invade lymph nodes, liver, and spleen and cause swollen glands and enlargement of these organs. Bleeding from the lungs, digestive tract, and brain can occur. AML can affect skin, gums, and linings of the spinal cord and brain.

    How Is AML Diagnosed?

    • The doctor will use blood tests and perform a bone marrow biopsy. The biopsy involves removing marrow from the bone and examining it under a microscope.

    How Is AML Treated?

    • A cancer specialist called an oncologist manages treatment. The goal is complete remission so that no leukaemia cells remain in blood or bone marrow after treatment. First, combination chemotherapy (induction therapy) is given. If needed, additional chemotherapy is used. Chemotherapy also affects normal cells, which can lead to anaemia, easy bleeding, and frequent infections.
    • The doctor will examine the bone marrow after therapy. After complete remission, more chemotherapy is given to prevent leukaemia’s return (consolidation therapy).
    • The doctor may consider bone marrow transplantation, also called stem cell transplantation, at this point. Stem cells are the source of all blood cells. For a bone marrow transplant, healthy marrow containing stem cells is given to replace the abnormal marrow. Donors of healthy marrow are usually close relatives. Stem cells start to produce new blood cells without any leukaemia cells.
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    CHRONIC LYMPHOCYTIC LEUKEMIA

    What Is Chronic Lymphocytic Leukemia?

    • Leukaemia is cancer of the white blood cells. Bone marrow is spongy tissue in the middle of the bones. Blood cells form and develop in the marrow and then move into the bloodstream. Leukaemia can be acute or chronic. Acute leukaemia affects cells in the bone marrow before they fully develop. Chronic leukaemia affects fully grown cells.
    • Chronic lymphocytic leukaemia (CLL) causes too many white blood cells to be produced. These cells don’t normally work, so people have greater chances of getting serious infections and bleeding.
    • CLL is the most common type of leukaemia in Western countries. It usually occurs among people older than 60, in women twice as often as men. Many people with CLL have a normal lifespan due to a long life expectancy with this disease and the elderly age of most people at the time of diagnosis. CLL cannot be prevented.

    What Causes CLL?

    • The cause of CLL is unknown. It cannot be caught but does seem to run in families. Also, one-third of people with CLL have an extra chromosome 13 (producing trisomy 13). Farmers ex¬posed to certain pesticides and people who work with rubber or asbestos may have an increased risk.

    What Are the Symptoms of CLL?

    • The most common symptoms are feeling sick and extremely tired. Swollen glands (enlarged lymph nodes) or recurrent infections due to a weakened immune system can sometimes be the first symptom. People may also have nosebleeds, easy bruis¬ing, or other bleeding problems, and weakness from anaemia (low red blood cell count) or thrombocytopenia (low platelet count). Other symptoms in advanced stages are shortness of breath, weight loss, discomfort in the abdomen (belly), joint pain and swelling, and fever. Problems with the body’s immune (infection-fighting) system lead to special types of blood prob¬lems (anaemia, thrombocytopenia) and increased chances for bacterial, fungal, and unusual viral infections.

    How Is CLL Diagnosed?

    • About one-quarter of people have no symptoms. CLL is often found from blood tests done for another reason. These people have too many white blood cells, swollen glands, or enlarged spleen (the spleen makes and stores blood cells). The doctor may order more blood tests, bone marrow sample, chest x-rays, and computed tomography to determine the stage of CLL.

    How Is CLL Treated?

    • People with no symptoms may need no treatment, but the doctor will watch them carefully. The doctor will suggest seeing a haematologist, a specialist in leukaemia treatment.
    • People with symptoms receive chemotherapy. Chemotherapy can cause side effects, including nausea, vomiting, diarrhoea, mouth sores, weakness, bleeding, a greater chance of getting more infections, and other cancers.
    • Radiation therapy to the spleen and lymphoid tissue can help control some symptoms. Sometimes the spleen is removed, but this doesn’t affect the normal living.
    • Bone marrow transplantation may cure younger people with CLL. Transplantation replaces diseased marrow with healthy marrow. It is not commonly done in CLL due to the advanced age of most patients.
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    CHRONIC MYELOGENOUS LEUKEMIA

    What Is Chronic Myelogenous Leukaemia?

    • Leukaemia is cancer of the white blood cells. Bone marrow is spongy tissue in the middle of the bones. Blood cells form and develop in the marrow and then move into the bloodstream. Leukaemia can be acute or chronic. Acute leukaemia affects young (immature) cells in the bone marrow. Chronic leukaemia affects fully grown cells. About 20% of adult leukemia cases are chronic myelogenous leukemia (CML).
    • CML causes bone marrow to make too many white blood cells. These cells don’t work normally.
    • In chronic CML, white blood cells become more immature and cannot fight infection. In advanced CML, most white blood cells are myeloblasts, the most immature cell, and people can get serious infections. CML occurs among people of all ages but is most common after age 60. CML cannot be caught or prevented and usually isn’t passed on from parents to children.

    What Causes CML?

    • The cause is unknown, but benzene and high radiation doses may be involved. Also, CML cells contain a chromosome abnormality (Philadelphia chromosome, found in over 95 percent of people with CML).

    What Are the Symptoms of CML?

    • Many people with chronic CML have no or few symptoms. Some feel fullness in the abdomen (belly) from a large spleen. Some people may have tiredness, loss of appetite and weight, sweating, swollen or bruised gums, shortness of breath, bleeding, and bone pain.
    • Anaemia (low red blood cell count) and thrombocytopenia (low platelet count) occur later. People with advanced CML may have severe headaches or shortness of breath (high numbers of myeloblasts get stuck in the lungs and brain).

    How Is CML Diagnosed?

    • The doctor diagnoses chronic CML by blood and bone marrow tests that show a high white blood cell count, high platelet count, and Philadelphia chromosomes in marrow cells. For a bone marrow biopsy, a long hollow needle is inserted into the bone to remove a marrow sample for study with a microscope.

    How Is CML Treated?

    • Haematologists (specialists in blood diseases) or oncologists (specialists in cancer) treat people with CML. Treatment consists of medications or bone marrow transplantation (replacement of diseased marrow).
    • The best drug treatment is imatinib (Gleevec). In marrow transplantation, the abnormal bone marrow is replaced with healthy marrow or is treated with medicine. Marrow donors are usually close relatives (brother, sister) or volunteers whose marrow is a close match. Transplantation has many side effects or complications including hair loss and mouth sores, infections, and life-threatening graft-versus-host disease.
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    HODGKIN'S LYMPHOMA

    What Is Hodgkin’s Lymphoma?

    • Hodgkin’s lymphoma (or Hodgkin’s disease) is a type of cancer of the lymph nodes (lymph glands). Lymph glands and lymph vessels are part of the immune system that filter infection and other diseases from the body. The disease usually affects lymph glands, white blood cells, and the spleen. People of any age can have it, but those between 15 and 30 and older than 50 years most often get it. It can range from mild to severe. About 80% of people can be cured, especially if the disease is found and treated early.

    What Causes Hodgkin’s Lymphoma?

    • The cause is unknown. People with impaired immune systems have a greater risk.

    What Are the Symptoms of Hodgkin’s Lymphoma?

    • The most common symptom is swollen, painless, rubbery lymph glands, usually in the armpit, groin, and neck. Others include bleeding or easy bruising, fatigue, fever, itching, night sweats, pain in lymph glands after drinking alcohol, weakness, and weight loss. Certain symptoms relate to where the disease spreads.

    How Is Hodgkin’s Lymphoma Diagnosed?

    • The doctor will make a diagnosis from medical history, physical examination, blood tests, and lymph gland and bone marrow biopsies. Biopsies involve getting bone marrow (with a needle) and/or small pieces of lymph node tissue for study with a microscope. Other tests may in some cases include laparotomy, which is surgery on the abdomen (belly) for disease staging. Staging shows how far the disease has spread. Chest x-ray computed tomography (CT), and positron emission tomography (PET, a kind of x-ray) may also be done for staging. The doctor will suggest seeing an oncologist (cancer treatment specialist) and a radiation oncologist (specialist in treating cancer with radiation).

    How Is Hodgkin’s Lymphoma Treated?

    • Treatment depends on how far the disease has spread. Chemotherapy (using drugs) and radiation therapy (or radiotherapy) are used to kill the cancer cells. Chemotherapy is usually first given intravenously (directly into a vein), in the hospital. Pain medicine will also be given. The severe or recurrent disease may need a bone marrow transplant. Some treatments may affect the ability to have children.
    • Treatment is generally very effective and cures four out of five patients.
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    NON-HODGKIN'S LYMPHOMA NHL

    What Is Non-Hodgkin’s Lymphoma NHL?

    • Non-Hodgkin’s lymphoma (NHL) is cancer of the lymphatic system, which is part of the body’s immune (infection-fighting) system. It affects white blood cells called lymphocytes. Lymphocytes are made in bone marrow, lymph nodes (lymph glands), and spleen. NHL is more common than Hodgkin’s lymphoma.
    • Most cases occur in men and women, usually older than 60.

    What Causes the NHL?

    • The cause is unknown. The weakening of the immune system by viruses such as human immunodeficiency virus (HIV) and Epstein-Barr virus (EBV), organ transplantation medicines, and too much radiation may increase risks.

    What Are the Symptoms of NHL?

    • The most common symptoms are swollen, painless lymph glands in the neck, armpits, and groin. Others include fever, chills, soaking night sweats, coughing, trouble breathing, chest pain, weakness, tiredness, weight loss, swollen legs and face, and abdominal pain and swelling. Nausea, vomiting, loss of appetite, headache, and itching can occur.

    How Is NHL Diagnosed?

    • The doctor will make a diagnosis from medical history, physical examination, blood tests, and lymph gland and bone marrow biopsy. In a biopsy, tissue taken from a gland or bone marrow is studied with a microscope. Other tests may include laparotomy, which is surgery on the abdomen (belly). X-rays computed tomography (CT), and positron emission tomography (PET) may be done for staging.
    • An oncologist (specialist in cancer treatment) will be involved in the care.

    How Is NHL Treated?

    • Low-grade lymphomas have a longer life expectancy but cannot be cured. With aggressive treatment, some intermediate and high-grade lymphomas can be cured. About 60% of NHLs can be cured.
    • Some NHLs grow so slowly that treatments are given only if symptoms occur. This is called watching and waiting.
    • Medicines, radiation, and maybe bone marrow transplantation are used for treatment. Chemotherapy may be given by mouth or through a vein in the hospital, or at home or the doctor’s office. The biological treatment uses medicines made from substances produced by the body’s immune system. Radiation therapy uses high-energy x-rays from machines or injections.
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    BLOOD MALIGNANCIES GENOMIC RISK ASSESSMENT
    • Innovative genomic DNA testing to investigate if you are at a higher risk of developing blood malignancy due to certain hereditary mutations in your genes.
    • This genomic test is recommended if you have a strong family history of blood malignancies (i.e. first-degree relative who has been diagnosed with blood malignancy).
    • You will be provided with a DNA assessment kit that contains all the necessary materials and instructions to have your DNA sample taken without any pain or stress.
    • You will be able to take your DNA sample in the comfort of your home (or you can get your treating GP or specialist to take it for you in the clinic). Afterwards, you can simply post the DNA sample back, in the provided prepaid envelope, to Genomic Medicine UK laboratory in London.
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    OVERVIEW

    This genomic malignancy risk assessment evaluates your DNA for the following hereditary genetic mutations that may increase your risk of developing blood malignancy:

    CEBPA

    GATA2

    PRF1

    RUNX1

    SBDS

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    KNOWLEDGE IS POWER
    • If your results show that you are genetically predisposed to developing blood malignancy, your prognosis will be significantly improved by having regular malignancy screenings at shorter intervals. Please remember that the absolute majority of malignant tumours are treatable and curable when they are caught at their early stages.
    • If your test shows that you are at a higher risk of developing blood malignancy, this can be enormously mitigated in most of the cases by adopting a healthier lifestyle and following our malignancy prevention guidance. Please remember that genes are not a destiny book but are only a background for a multitude of different potentials.
    • It is always true that prevention is better than cure.
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    FREE REFERRAL TO A SPECIALIST CONSULTANT

    If you your genomic testing showed that you require referral to a specialist consultant, we will provide you, at no cost to you, with a referral letter to a specialist consultant from our wide network of independent doctors all around the United Kingdom. Our referral letter will give the specialist consultant all the needed details to take care of your clinical case, according to the results of the genomic tests you have had at Genomic Medicine UK.

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    QUALITY ASSURANCE
    • This advanced genomic test is carried out by cutting-edge next-generation DNA sequencing technology at our ISO9000 certified and accredited laboratory.
    • All test results are interpreted and reported in London by our highly qualified licenced consultant medical doctors.
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    FREQUENTLY ASKED QUESTIONS
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    FURTHER INFORMATION
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    SAMPLE REPORTS
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    BY POST OR BY APPOINTMENT

    If you prefer to visit Genomic Medicine UK instead of having your genomic test by post, as explained above, you are most welcome to book a suitable appointment for you to visit our premises in central London where our fully trained and friendly staff will be more than happy to take your DNA sample in one of our outpatients’ clinics in Harley Street.

£499.00

£499.000

Innovative genomic DNA testing to investigate if you are at a higher risk of developing blood malignancy due to certain hereditary mutations in your genes.

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