Sorted By Test Name - Mayo Medical Laboratories

BECH
82669
of IC2 (LIT1) is hypothesized to silence the expression of a number of maternally expressed genes,
including CDKN1C. Hypermethylation of IC1 is hypothesized to silence the expression of H19, while
also resulting in overexpression of IGF2. Absence of CDKN1C and H19 expression, in addition to
overexpression of IGF2, is postulated to contribute to the clinical phenotype of BWS. Hypomethylation of
IC1 is hypothesized to result in overexpression of H19 and underexpression of the IGF2, which is thought
to contribute to the clinical phenotype of RSS.
Useful For: Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or
Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on
ultrasound findings or in families at risk for BWS/RSS
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided
Clinical References: 1. DeBaun MR, Niemitz EL, McNeil DE, et al: Epigenetic alterations of H19
and LIT1 distinguish patients with Beckwith-Wiedemann Syndrome with cancer and birth defects.
HumGenet 2002;70:604-611 2. Choufani S, Shuman C, Weksberg R: Beckwith-Wiedemann Syndrome.
Am J of Med Genet 2010;154C:343-354 3. Wakeling EL: Silver-Russell syndrome. Arch Dis Child
2011;96(12):1156-1161 4. Eggermann T, Begemann M, Binder G, et al: Silver-Russell syndrome: genetic
basis and molecular genetic testing. Orphanet J Rare Dis 2010;5:19-26 5. Priolo M, Sparago A, Mammi
C, et al: MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting
defects of BWS and SRS in a single-tube experiment. Euro J of Hum Genet 2008;16:565-571
Beech, 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
allergic reactions to insect venom allergens, drugs, or chemical allergens.
Interpretation: Detection of IgE antibodies in serum (Class 1 or greater) indicates an increased
likelihood of allergic disease as opposed to other etiologies and defines the allergens that may be
responsible for eliciting signs and symptoms. The level of IgE antibodies in serum varies directly with the
concentration of IgE antibodies expressed as a class score or kU/L.
Reference Values:
Class IgE kU/L Interpretation
0 Negative
1 0.35-0.69 Equivocal
2 0.70-3.49 Positive
3 3.50-17.4 Positive
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