Developmental Delay: Gene Testing

Oct 29, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Developmental Delay: Gene Testing

Allele type Repeat range Methylation status Normal 5–44 Not methylated Intermediate/gray zone 45–54 Not methylated Premutation 55–200 Not methylated Full mutation >200 Methylated Methylation mosaic >200 Variable methylation Premutation/full-mutation mosaic…

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Sexually Transmitted Diseases

Oct 29, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Sexually Transmitted Diseases

Manufacturer Assay method Sample preparation Amplification strategy Detection strategy Contamination controls IC Becton Dickinson SDA DNA extraction via para-magnetic particle technology Target Fluorescence Closed System Yes Routine environmental monitoring suggested…

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Bacterial Infections

Oct 29, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Bacterial Infections

Figure 49.1 Schematic of MALDI-TOF mass spectrometry for differentiation of two organisms (A and B). Differences in DNA (1) encode for different protein products (2) which are differentially fragmented under…

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Viral Infections of the Central Nervous System

Oct 29, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Viral Infections of the Central Nervous System

Herpesviruses Herpes simplex 1 and 2 Varicella-zoster Epstein-Barr Cytomegalovirus Human herpesvirus 6 Enteroviruses Poliovirus Coxsackievirus Echovirus Numbered enteroviruses Parechoviruses Human parechovirus 1–14 Arboviruses See Table 48.2 Childhood illness associated Measles…

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Deafness

Oct 29, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Deafness

Sample evaluation—targeted genomic enrichment Sample ID 112111-3 Phenotype High-frequency SNHL Exons targeted 1,357 Bases targeted 351,522 base pairs Metric Result (reference range) Total reads 28.2 million (14–32 million) % Reads…

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Breast Cancer

Oct 29, 2016 by in PATHOLOGY & LABORATORY MEDICINE Comments Off on Breast Cancer

© Springer International Publishing Switzerland 2016Debra G.B. Leonard (ed.)Molecular Pathology in Clinical Practice10.1007/978-3-319-19674-9_33 33. Breast Cancer Carolyn Mies1   (1) Genomic Health Inc., 301 Penobscot Drive, Redwood City, CA 94063, USA     Carolyn Mies Email: cmies@genomichealth.com Abstract…

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