Molecular Diagnostics Quality Control — Flashcards

A _____ score is calculated using the molecular tests for breast cancer, ranging from 0-100

In Array based Comparative Genomic Hybridization, if the test sample has amplification, then some spots on the array will flouresce _____.

Point mutation of _____ protein is seen in uveal melanoma.

What is the mode of diagnosis of Duchenne muscular dystrophy?_____

_____ syndrome is a disease from abnormal biogenesis of lysosome-related organelles with impaired melanosome maturation and absent dense bodies in thrombocytes.

Over 85% of mutations in the FGFR3 gene occur _____ and are related to increased paternal age

_____ syndrome is most commonly characterized by a 47,XXY karyotype

_____ disease is due to a deletion of the VHL gene on chromosome 3p, leading unregulated activity of HIF1a

Mutations that cause _____ of the HER2 receptor can precipitate development of certain Breast* and Gastric* Cancers by amplifying the signal transduction

In _____, 23 distinct fluorescent colours are made by mixing 5 fluorophores and each chromosome is identified by a unique colour.