Uses and limitations of laboratory medicine

Question 1

Immunoassays

Answer 1

Immunoassays are chemical tests used to detect or quantify a specific substance, the analyte, in a blood or body fluid sample
Use an immunological reaction
Highly sensitive and specific
Their high specificity results from the use of antibodies and purified antigens as reagents

Question 2

genetics

Answer 2

individual genes

Question 3

genomincs

Answer 3

concerning the whole genome

Question 4

karyotyping

Answer 4

chromosome analysis

Question 5

FISH - Fluorescence in situ hybridization

Answer 5

can look at chromosomes on a smaller scale, and pick up deletions

Question 6

Cytogenetic tests

Answer 6

karyotype
FISH
array CGH

usually used in children
answers 2 questions:
1. does this child have X syndrome?
2. is there an identifiable chromosome abnormality?

Question 7

array CGH

Answer 7

molecular cytogenetic technique for the detection of chromosomal copy number changes on a genome wide and high-resolution scale
compares patient DNA with control DNA
e.g. can pick up duplications and deletions

Question 8

DNA sequencing

Answer 8

will look at individual base changes

e.g. BRCA-2 mutations

Question 9

gene panel testing

Answer 9

looks at a sequence of multiple genes
familial hypertrophic cardiomyopathy - 30 genes
familial breast cancer - 5+ genes

Question 10

whole exome

Answer 10

testing every single exon within a cell (~180 000)

Question 11

whole genome

Answer 11

all exons, introns, and everything

all 6bn bases in the genome