Sorted By Test Name - Mayo Medical Laboratories

MUC
82675
oligosaccharidoses. MPSs are autosomal recessive disorders with the exception of MPS II, which follows
an X-linked inheritance pattern. Affected individuals typically experience a period of normal growth and
development followed by progressive disease involvement encompassing multiple systems. The severity
and features vary, and may include facial coarsening, organomegaly, skeletal changes, cardiac
abnormalities, and developmental delays. Moreover, disease presentation varies from as early as late
infancy to adulthood. Additional information regarding individual disorders can be found under test
MPSSC/84464 Mucopolysaccharides (MPS) Screen, Urine. A diagnostic workup for individuals with
suspected MPS begins with Mayo Medical Laboratories' test MPSSC/84464 Mucopolysaccharides (MPS)
Screen, Urine, which includes both the quantitative analysis of total GAGs and thin layer chromatography
(TLC). Interpretation is based upon pattern recognition of the specific sulfate(s) detected on TLC and the
qualitative analysis of their relative amounts of excretion. However, an abnormal MPS analysis is not
sufficient to conclusively establish a specific diagnosis. It is strongly recommended to seek confirmation
by an independent method, typically in vitro enzyme assay (available in either blood or cultured
fibroblasts from a skin biopsy) and/or molecular analysis. After a specific diagnosis has been established,
Mayo Medical Laboratories' test MPSQN/81473 Mucopolysaccharides (MPS), Quantitative, Urine, which
does not include the TLC, can be appropriate for monitoring the effectiveness of a bone marrow transplant
or enzyme replacement therapy. However, some clinicians will opt to perform the MPS screen, which
allows for monitoring of not only the total amount of GAGs, but also the excretion of specific sulfates, as
these may change in patients with an MPS disorder undergoing treatment.
Useful For: Monitoring patients with mucopolysaccharidosis who have had bone marrow transplants
or are receiving enzyme therapy
Interpretation: An abnormally elevated excretion of glycosaminoglycan (GAG) is characteristic of
mucopolysaccharidoses. GAG levels may normalize or remain elevated in patients who have undergone
bone marrow transplants or are receiving enzyme replacement therapy.
Reference Values:
0-4 months: < or =53.0 mg/mmol creatinine
5-18 months: < or =31.0 mg/mmol creatinine
19 months-2 years: < or =24.0 mg/mmol creatinine
3-5 years: < or =16.0 mg/mmol creatinine
6-10 years: < or =12.0 mg/mmol creatinine
11-14 years: < or =10.0 mg/mmol creatinine
>14 years: < or =6.5 mg/mmol creatinine
Clinical References: Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The Metabolic and
Molecular Bases of Inherited Disease. Eighth edition. Edited by CR Scriver, AL Beaudet, D Valle, et al.
New York, McGraw-Hill Book Company, 2001, pp 3421-3452
Mucor, IgE
Clinical Information: Clinical manifestations of immediate hypersensitivity (allergic) diseases are
caused by the release of proinflammatory mediators (histamine, leukotrienes, and prostaglandins) from
immunoglobulin E (IgE)-sensitized effector cells (mast cells and basophils) when cell-bound IgE
antibodies interact with allergen. In vitro serum testing for IgE antibodies provides an indication of the
immune response to allergen(s) that may be associated with allergic disease. The allergens chosen for
testing often depend upon the age of the patient, history of allergen exposure, season of the year, and
clinical manifestations. In individuals predisposed to develop allergic disease(s), the sequence of
sensitization and clinical manifestations proceed as follows: eczema and respiratory disease (rhinitis and
bronchospasm) in infants and children less than 5 years due to food sensitivity (milk, egg, soy, and wheat
proteins) followed by respiratory disease (rhinitis and asthma) in older children and adults due to
sensitivity to inhalant allergens (dust mite, mold, and pollen inhalants).
Useful For: Testing for IgE antibodies may be useful to establish the diagnosis of an allergic disease
and to define the allergens responsible for eliciting signs and symptoms. Testing also may be useful to
identify allergens which may be responsible for allergic disease and/or anaphylactic episode, to confirm
sensitization to particular allergens prior to beginning immunotherapy, and to investigate the specificity of
Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or MayoMedicalLaboratories.com Page 1247