Advances in the Diagnosis and Evaluation of Disabling Physical Health Conditions (2023) / Chapter Skim
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7 Techniques for Hematological Disorders
7 Techniques for Hematological Disorders
Pages 163-180
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From page 163... ...
. Rapidly emerging scientific advances in molecular biology have enabled the development of newer diagnostic techniques that focus on individualized molecular diagnoses and targeted therapeutics, on flow cytometry to determine whether leukemia cells express the target protein for a particular targeted therapy, and on genetic testing for a particular gene mutation which can be targeted by a specific medication.
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From page 164... ...
Following those discussions, at the end of the chapter the committee highlights hematological tests that may become generally available in the next 5–10 years. SELECTED DIAGNOSTIC TECHNIQUES FOR HEMATOLOGICAL DISORDERS The advances in diagnostic techniques for assessing hematologic disorders shown in Box 7-1 are described below.
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From page 165... ...
. Genetic Testing As described in Chapter 3, genetic testing has become widely available for clinical diagnostic purposes, aiding clinicians in genetic counselling for families, monitoring affected patients, and determining treatment options.
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From page 166... ...
For patients presenting with pancytopenia (low white blood cell count, hemoglobin, and platelets) , genetic testing for a panel of inherited bone marrow failure syndromes is commonly done in order to distinguish idiopathic aplastic anemia from inherited syndromes, since their treatment options may differ.
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From page 167... ...
Immunohistochemistry is used to examine cells in tissue sections on microscope slides, and allows cells to be examined in the context of surrounding histologic tissues. Flow cytometry examines antibodies bound to cells in a liquid suspension, allowing the analysis of multiple markers simultaneously on each individual cell.
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From page 168... ...
Ethnic minorities and people of low socioeconomic status who have impaired access to health care in general would hence also have less access to these methods.
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From page 169... ...
(j) Flow cytometry tests are extremely reliable when performed in a CLIA-approved laboratory with the appropriate control samples run simultaneously.
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From page 170... ...
The osmotic fragility test assesses the resistance of red blood cells to hemolysis by subject ing cells to osmotic stress using various concentrations of sodium chloride solution. The test has good accuracy; however, the method is laborious and depends on those who administer it having well trained technical skills.
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From page 171... ...
PNH is characterized clinically by bone marrow failure, thrombosis, and chronic hemolytic anemia. The wide spectrum of clinical presentation and variable disease course provides challenges in establishing a diagnosis and managing patients.
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From page 172... ...
Ethnic minorities and people of low socioeconomic status who have impaired access to health care in general would hence also have less access to these methods.
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From page 173... ...
Ethnic minor ities and people of low socioeconomic status who have impaired access to health care in general would hence also have less access to these methods.
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From page 174... ...
Several commonly used blood tests assess blood c oagulation, including prothrombin time, international normalized ration, activated partial thromboplastin time, platelet count, fibrinogen con centration, and D-dimer. Those tests are used for the clinical diagnosis of coagulopathy, to monitor anticoagulation therapy, and to assist in treating bleeding episodes (Shaydakov et al., 2022)
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From page 175... ...
Ethnic minorities and people of low socioeconomic status who have impaired access to health care in general would hence also have less access to these methods.
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From page 176... ...
Ethnic minorities and people of low socioeconomic status who have impaired access to health care in general would hence also have less access to these methods.
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From page 177... ...
APLAs are also called lupus anticoagulants as they are commonly found in patients who have been diagnosed with systemic lupus erythematosus; this name, however, is a misnomer as APLA are also found in people who do not have lupus and are actually pro-thrombotic, not anticoagulants. People with recurrent venous thromboembolism or other abnormal clotting, repeated miscarriages, or autoimmune diseases such as systemic lupus erythematosus and multiple sclerosis often have antiphospholipid antibodies.
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From page 178... ...
The tests are used for people who have abnormal blood clots, repeated miscarriages, or autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, or systemic sclerosis.
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From page 179... ...
In addition, the technology to perform sequencing tests more quickly and with smaller samples will continue to improve. Finally, tests are currently being developed to sequence cell-free DNA in the blood as a mechanism to monitor for genetic mutations found in cancer cells throughout the body.
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From page 180... ...
2022. Review of the current evidence for topical treatment for venous leg ulcers.
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