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 fluoresce _____.

Point mutation of _____ protein is seen in uveal melanoma.

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

_____ is due to an activating mutation in the fibroblast growth factor receptor 3 (FGFR3) gene

_____ syndrome is caused by a defect in fibrillin, a glycoprotein that forms a sheath around elastin

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

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

In _____, 24 distinct fluorescent colours are made by mixing 5 fluorophores and each chromosome is identified by a unique colour.

_____ syndrome is most commonly characterized by a 45,XO karyotype