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The HUGO Journal

Official Journal of the Human Genome Organisation

Table 5 aCGH–Cost of different reporting scenarios

From: Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom

Scenarioa

Cost of patient aCGH test

Cost of Targeted FISH test

Cost of MLPA test

Cost of 2 parental aCGH testsb

Total cost

1 No genome imbalance found; only known benign variants/polymorphisms

£446

–

–

–

£446

2 Genome imbalance (deletion or duplication) found of known clinical relevance.

£446

–

–

–

£446

3 Genome imbalance (deletion or duplication) found of unknownclinical relevance. Targeted FISH test performed on patient sample. Genome imbalance confirmed. Targeted FISH test on parental samples. Imbalance confirmed as inherited or ‘de novo’.

£458

£214 c

–

–

£672

4 Genome imbalance (duplication only) found of unknownclinical relevance. Targeted FISH test performed on patient sample. Genome imbalance not confirmed. Targeted MLPA test on parental samples. Imbalance confirmed as inherited.

£458

£110

£245d

–

£813

5 Genome imbalance (duplication only) found of unknownclinical relevance. Targeted FISH test performed on patient sample. Genome imbalance not confirmed. Targeted MLPA test on parental samples negative. Targeted MLPA test on patient sample performed. Imbalance confirmed as ‘de novo’.

£458

£110

£290d

–

£858

6 Genome imbalance (deletion or duplication) found of unknownclinical relevance. Parental samples tested by aCGH. Imbalance confirmed as inherited

£442

–

–

£790

£1,232

7 Genome imbalance (deletion or duplication) found of unknownclinical relevance. Parental samples tested by aCGH and negative. Targeted FISH test performed on patient sample. Imbalance confirmed as ‘de novo’

£458

£110

–

£790

£1,358

  1. a Scenarios 1 and 2 give the cost for a single patient sample only; the remaining scenarios account for the testing of both a patient and their two parents by aCGH, targeted FISH or MLPA
  2. b The cost of testing each parent sample is slightly less than the cost of testing the patient sample, since some of the preliminary work and therefore a proportion of the cost is contained within the patient test cost
  3. c Three FISH tests in total; the cost of testing a single sample (£110) is significantly more than testing each additional sample (£52) due to the initial cost of growing glycerols and preparing the probe ‘in house’
  4. d The cost of testing a single sample (£200) is significantly more than testing each additional sample (£45) due to the initial cost of designing and purchasing targeted MLPA probe sets
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