Comparative Genomic Hybridisation
Microarray = looks for copy number variation in DNA i.e. anything other than 2. But does pick up small changes, resolution 10MB pairs
CGH microarray is an application of micro array
Result:
Known copy variant = cause for disease found
Copy variant uncertain significance = found more frequently in disease but also in health
Copy variant unknown significance = previously unknown copy variant ?benign
No copy variant = could be genetic but no copy variant found
for ?significance test parents
If parent has features and has variant = causative
If parent no features and has copy variant = benign
If neither parent has variant then it is de novo
CGH microarray is an application of micro array
Result:
Known copy variant = cause for disease found
Copy variant uncertain significance = found more frequently in disease but also in health
Copy variant unknown significance = previously unknown copy variant ?benign
No copy variant = could be genetic but no copy variant found
for ?significance test parents
If parent has features and has variant = causative
If parent no features and has copy variant = benign
If neither parent has variant then it is de novo