Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (1081 page)

   Limitations

   Compared with white women, average MIS values were lower among black (25.2% lower) and Hispanic (24.6% lower) women.

   Menopausal women or women with premature ovarian failure have very low levels.

   Not well-standardized test and not specific for malignancy. Interpretation needs to be in conjunction with clinical symptoms.

MULTIGENE CARRIER PANELS
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   Definition

   Universal Carrier Test provided by Counsyl is a noninvasive, saliva-based assay for more than 100 mostly autosomal recessive, Mendelian diseases offered to individuals or couples. InheriGen, GenPath tests for 164 autosomal recessive and X-linked inherited diseases, including Ashkenazi Jewish Diseases. InheriGen Plus, GenPath includes these 164 diseases and also screens for fragile X, spinal muscular atrophy, and cystic fibrosis carrier status.

   Use

   Carrier testing

   Limitations

   The results of a genetic test may be affected by DNA rearrangements, blood transfusion, bone marrow transplantation, or rare sequence variations.

   Results are provided for diseases and mutations tested on the panel. Diseases caused by repeat expansions (such as fragile X), sporadic deletions/duplications (such as Duchenne muscular dystrophy) may not included in the panel.

MYELOPEROXIDASE (MPO), PLASMA
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   Definition

   MPO is an enzyme stored in granules of PMNs and macrophages with primary anti-infective functions. It is released in plasma in inflammatory conditions and is thought to potentially play a role in CHD by oxidizing LDL and contributing to atherosclerotic plaque instability. MPO is elevated in angiographically proven CAD, acute coronary syndromes, and correlates with functional class in systolic heart failure.