Sorted By Test Name - Mayo Medical Laboratories

BLM
85316
MUSS
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
4 17.5-49.9 Strongly positive
5 50.0-99.9 Strongly positive
6 > or =100 Strongly positive Reference values
apply to all ages.
Clinical References: Homburger HA: Allergic diseases. In Clinical Diagnosis and Management by
Laboratory Methods. 21st edition. Edited by McPherson RA, Pincus MR. WB Saunders, Publ, New York,
Chapter 53, Part VI, pp. 961-971, 2007
Bloom Syndrome, Mutation Analysis, 2281del6/ins7
Clinical Information: Bloom syndrome is characterized by short stature, sun sensitivity,
susceptibility to infections, and a predisposition to cancer. Mutations in the BLM gene lead to genetic
instability (increased chromosomal breakage and sister chromatid exchange) and cause the clinical
manifestations of the syndrome. The protein encoded by the BLM gene is a helicase involved in
maintaining DNA integrity. The carrier rate in the Ashkenazi Jewish population is 1/107. There is a
common mutation in the Ashkenazi Jewish population: 2281delATCTGAins TAGATTC (2281del6/ins7).
The carrier detection rate for this mutation is greater than 99%.
Useful For: Carrier screening for individuals of Ashkenazi Jewish ancestry Confirmation of suspected
clinical diagnosis of Bloom syndrome in individuals of Ashkenazi Jewish ancestry Prenatal diagnosis for
at-risk pregnancies
Interpretation: An interpretive report will be provided.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening in individuals of
Ashkenazi Jewish descent. Genet Med 2008 Jan;10(1):54-6 2. Hickson ID: RecQ helicases: Caretakers of
the genome. Nat Rev Cancer 2003;3(3):169-178
Blue Mussel, IgE
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