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Doctor insights on: Tests For Mucopolysaccharidosis

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Dr. Herbert Fuchs
45 doctors shared insights

Mucopolysaccharidoses (Definition)

An inherited metabolic disorders affecting a type of complex carbohydrate called a mucopolysaccharide that is deposited in body tissues because the person lacks the specific enzyme needed to metabolize it. Deposition of mucopolysaccharide in tissues damages and distorts them, stunts the child's growth and development, ...Read more


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How can doctors test for autoimmune disease? Are there specific tests?

How can doctors test for autoimmune disease? Are there specific tests?

Autoimmune Disease: When you have an autoimmune disease, your body produces antibodies against some of your own tissues. Diagnosing an autoimmune disease involves identifying the antibodies your body is producing. Tests may include: antinuclear antibody tests, autoantibody tests, complete blood count (cbc), c-reactive protein (crp), erythrocyte sedimentation rate (esr). ...Read more

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What are tests for diagnosis for cerebrovascular disease?

What are tests for diagnosis for cerebrovascular disease?

Cerebrovascular: Mra's, carotid dopplers, and carotid computed tomographic angiograms provide the structural backdrop for assessing the cerbrovasculature. ...Read more

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What are tests for lipid storage disease?

What are tests for lipid storage disease?

LIPID STORAGE D.: Enzyme assay of WBC will diagnose the disease plus clinical sx. ...Read more

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What tests are needed for diagnosing cushings disease?

What tests are needed for diagnosing cushings disease?

Complicated: Cushings syndrome is diagnosed by first having a clinical suspicion followed by careful testing: late night salivary cortisol, urinary cortisol or a Dexamethasone suppression test. Tests must be clearly and reproducibly abnormal. Further identification of the cause of the syndrome needs to be tailored to your particular situation. ...Read more

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What laboratory tests are used for diagnosis of hyaline membrane disease?

What laboratory tests are used for diagnosis of hyaline membrane disease?

Dx based on pattern: This is conidered a pattern illness.The name hmd came from the hyaline membrane found on microscopic examination of lung tissue from infants with this illness.The DX is considered if a pattern of xray, oxygen need & prematurity make it likely. Antibiotics are often started just in case a pneumonia is acting like hmd. You often know more after you finish rx, not treating can result in disaster ...Read more

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What laboratory tests are used for diagnosis of hyaline membrane disease?

What laboratory tests are used for diagnosis of hyaline membrane disease?

Dx based on pattern: This is conidered a pattern illness.The name hmd came from the hyaline membrane found on microscopic examination of lung tissue from infants with this illness.The DX is considered if a pattern of xray, oxygen need & prematurity make it likely. Antibiotics are often started just in case a pneumonia is acting like hmd. You often know more after you finish rx, not treating can result in disaster. ...Read more

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What are genetic tests for charcot-marie-tooth?

What are genetic tests for charcot-marie-tooth?

Chromosomal studies: A blood test for chromosomes and looking at dna. Other tests include: nerve conduction study -a test that measures the speed and amplitude of nerve impulses in the extremities electromyogram (EMG) -a test that records the electrical activity of muscle cells dna blood test-to confirm certain types of cmt, even if there are no symptoms. ...Read more

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What are the tests for fabry disease?

What are the tests for fabry disease?

Blood test: If the disease is suspected then the genetic tests can be done to look for the x linked galactosidase a enzyme deficiency. ...Read more

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What are the tests for myelodysplastic syndromes?

What are the tests for myelodysplastic syndromes?

Bone marrow: The only way to diagnose a myelodysplastic syndrome completely and accurately including prognostic factors is by performing a bone marrow biopsy and aspiration with subsequent multi-pronged assessment: morphology, flow cytometry, cytogenetics, and molecular studies. Some changes in the peripheral blood may suggest mds but a complete diagnosis still relies on bone marrow examination. ...Read more

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What are the tests for tay-sachs disease?

What are the tests for tay-sachs disease?

Genetic testing: Genetic testing can be done at labs. See a genetic counselor for details and for other apropos genetic tests for you to have at the same time. ...Read more

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What are the tests for celiac disease? Blood?

Anti-tTG first: In suspected celiac disease / gluten enteropathy / sprue, the cheap screening test is the anti-ttg (tissue transglutiminase); followup may include the more costly IgA anti-endomysial antibdies (ema), biopsy of the gut, and/or a trial of a gluten-free diet. No one knows how common celiac disease really is; what matters is whether gluten elimination ultimately helps you. ...Read more

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Please exlain alpha-fetoprotein testing for genetic disorders?

Please exlain alpha-fetoprotein testing for genetic disorders?

Alpha fetal protein: AFP is a fetal specific globulin, synthesized by the fetal yolk sac, gastrointestinal tract, and liver. The function of AFP is unknown. AFP blood levels can be measured during the second trimester to screen for open spina bifida and anencephaly, but can also uncover fetal abnormalities such as abdominal wall defects. AFP is also used in screening tests for downs syndrome and edwards syndrome. ...Read more

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What lab tests are used for arthritis?

What lab tests are used for arthritis?

Clinical eval +++: The most important 'test' is--as usual--the diagnostic tool between the physician's ears. Any well versed specialist in the field of arthritis (rheumatology) knows that hearing exactly what the details are given by the pt (history) and a careful, thorough exam of all parts of the body, will yield a dx, or at least what tests to order. Some: esr, crp, antibodies to own cells, cbc, etc. ...Read more

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What are the tests for myopathy?

What are the tests for myopathy?

Many: Ck with isoenzymes, electrolytes, magnesium, calcium, serum myoglobins, serum creatinine, urinalysis, complete blood count, erythrocyte sedimentation test, thyroid function tests, ast, electrocardiograph, genetic testing, antinuclear antibodies, electromyogram, mri, muscle biopsy. As you can see there are many tests, but the most important thing is to select a physician that is a specialist. ...Read more

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What tests for diagnosis of hyaline membrane disease?

What tests for diagnosis of hyaline membrane disease?

Dx based on pattern: This is conidered a pattern illness.The name hmd came from the hyaline membrane found on microscopic examination of lung tissue from infants with this illness.The DX is considered if a pattern of xray, oxygen need & prematurity make it likely. Antibiotics are often started just in case a pneumonia is acting like hmd. You often know more after you finish rx, not treating can result in disaster. ...Read more

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What are the tests for churg-strauss syndrome?

What are the tests for churg-strauss syndrome?

Diagnostic markers: Following diagnostic markers eosinophilic granulocytes and granuloma in affected tissue antinutrophil cytoplasmic antibodies(anca) eosinophilia. ...Read more

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What are some names for lab tests when testing for toxins in your system?

What are some names for lab tests when testing for toxins in your system?

Toxins in the system: test not needed. without specific illness or medical problem, toxins in your system is NOT some thing that need test(s). Many companies sell their products in the name of purifications. ...Read more

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What are the tests for wilson disease?

What are the tests for wilson disease?

It depends: Serum ceruloplasmin is often used and it is a poor choice as it misses about 30% of cases. Urine copper is my choice. If there's a family history or the diagnosis seems obvious, or urine copper is high, test the ATP7B gene. ...Read more

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