Official Journal of the Human Genome Organisation
Table 4 Karyotyping––Cost of reporting different scenarios
Scenarioa | Cost of Karyotypingb | Cost of Multi-telomere MLPAb | Cost of Multi-telomere FISHb | Cost of Targeted telomere FISHb | Total costa |
|---|---|---|---|---|---|
1 No genome imbalance found. | £117 (£103–£131) | – | – | – | £117 (£103–£131) |
2 Genome imbalance found of known clinical relevance. | £117(£103–£131) | – | – | – | £117 (£103–£131) |
3 Genome imbalance found of unknownclinical relevance. Parental samples karyotyped. Imbalance confirmed as inherited or ‘de novo’. | £351 (£309– £393) (3 tests) | – | – | – | £351 (£309–£393) (3 tests) |
4 No genome imbalance found. Multi-telomere MLPA test performed. No imbalance found. | £117 (£103–£131) | £45 (£40–£50) | – | – | £162 (£143–£181) |
5 No genome imbalance found. Multi-telomere FISH test performed. No imbalance found. | £117 (£103–£131) | – | £283 (£254–£313) | – | £400 (£357–£444) |
6 No genome imbalance found. Multi-telomere MLPA test performed. Genome imbalance found. Parental samples tested by Multi-telomere MLPA. Imbalance identified as clinically benign (normal parent carries identical anomaly) or imbalance confirmed ‘de novo’ by FISH and likeky to be clinically relevant. | £117 (£103–£131) | £45 (£40–£50) | – | £220 (£200–£240) (max. 2 tests) | £472 (£423–£521) |
7 No genome imbalance found. Multi-telomere FISH test performed. Genome imbalance found. Parental samples tested by Targeted telomere FISH. Imbalance identified as clinically benign (normal parent carries identical anomaly) or clinically relevant. | £117 (£103–£131) | – | £283 (£254–£313) | £324c (£304–£344) (max. 4 tests) | £724 (£661–£788) |