Abstract
In reply: We thank Bahlo for the response to our narrative review and agree that the developments in whole genome sequencing (WGS) justify increased use of this technique in determining genetic abnormalities in young-onset dementia. The C9orf72 repeat expansion is the most important genetic cause of frontotemporal dementia.
Although WGS is accredited for clinical use in many neurogenetic disorders, it is yet to be accredited by the National Association of Testing Authorities (NATA) for repeat disorders...
Although WGS is accredited for clinical use in many neurogenetic disorders, it is yet to be accredited by the National Association of Testing Authorities (NATA) for repeat disorders...
Original language | English |
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Pages (from-to) | 90 |
Number of pages | 1 |
Journal | Medical Journal of Australia |
Volume | 219 |
Issue number | 2 |
Early online date | 3 Jun 2023 |
DOIs | |
Publication status | Published - Jul 2023 |
Keywords
- Dementia
- Genetic counselling
- Genetic testing