Molecular diagnostics approaches

Molecular diagnostics approaches to carrier status for Duchenne muscular dystrophy are based on the discovery of the presence of a deletion in the gene for dystrophin. Sometimes, the testing approach provides a probability or likelihood estimate of an individual being a carrier (e.g., the use of indirect or linkage analysis for DMD when a deletion is not detectable), rather than clear documen-... 

Arber, D.A. 2000 Review molecular diagnostic approach to non-Hodgkin s lymphoma. J Mol Diagn, 2, 178-190.and correspondence PCR methods for determining B cell clonality. (2000) J Mol Diagn, 2, 217—218. 

Wang J, et al. Targeted array CGH as a valuable molecular diagnostic approach experience in the diagnosis of mitochondrial and metabolic disorders. Mol Genet Metab. 2012 106(2) 221-30. 

McManus, D.P. and Bowles, J. (1996) Molecular genetic approaches to parasite identification their value in diagnostic parasitology and systematics. InternationalJournalfor Parasitology 26, 687—704. 

This assay was used for the detection of three genes which are associated with MRSA and three different SERRS labels namely EAM, HEX, and TAMRA were used to identify these sequences. Using this approach it was possible to detect not only the exact complement DNA but also PCR product. It was also possible to detect every possible combination of the three sequences, present or absent, within a mixture demonstrating the multiplexing potential of SERRS for use in homogeneous molecular diagnostics assay. 

By virtue of where, when, and how the various organic matter inputs were formed and transported to the underlying sediments, it is possible to exploit specific chemical and isotopic characteristics to make inferences about the sources and composition of sedimentary organic matter. Much of this information is inaccessible at the bulk level. For example, bulk elemental compositions and stable carbon isotopic compositions are often insufficiently unique to distinguish and quantify sedimentary inputs. Abundances and distributions of source-specific organic compounds ( biomarkers ) can help to identify specific inputs. However, this molecular marker approach suffers from the fact that the source diagnostic marker compounds are... 

The tubular reabsorptive process is saturable. Any increase in the filtered load (because of glomerular damage, increased glomerular vascular permeability [e.g., inflammatory response], or increased circulating concentration of low molecular weight proteins) or decrease in reabsorptive capacity (because of tubular damage) can result in increased urinary protein excretion proteinuria). The pattern of urinary protein excretion can be used to identify the cause and to classify the proteinuria, of which there are three main types (Table 45-5). Diagnostic approaches to the characterization of proteinuria are considered in Chapter 24. 

This chapter illustrates the characterizations of technical procedures necessary in the course of these molecular evaluations, describing our laboratory experience and suggesting different diagnostic approaches microdissection techniques, extraction of nucleic acids from paraffin-embedded tissues, polymerase chain reaction (PCR), direct sequencing, and allelic separation by cloning [4-7],... 

Multiplexed immunoassays, which permit the simultaneous assay of several analytes in the same sample, are already available commercially. These systems typically depend on the use of reagent beads functionalized with different capture antibodies directed against the analytes of interest. Interest in multiplexed assays seems likely to continue to develop rapidly. The advantages and limitations of bead-based and microspot/microarray-based multiplexing approaches, as well as their application to the field of molecular diagnostics, have been discussed recently [200]. 

For more precise diagnostic approach the mammaglobins A and B and NY-BR-1 may be used in combination with other breast tissue-specific molecular markers such as maspin, lipophilin B, B305D, B726P, y-aminobutyrate type A receptor n subunit (GABAtt), CK19, CEA and MUC-1 in a multiplex PCR. 

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