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Costs of genetic tests
- Question
- Hello what are the costs of genetic testing for the identifcation of mutations (common & rare)?
- Answer
- Hello,
The search for the most common (30) mutations with the CF screening kit used in France is scored B 400 which is a little over 100 euros. This investigation is included in the list of acts, and is reimbursed by health insurance.
The identification of the out of kit mutations, less frequent but more numerous (about 1900 mutations), requires:
- first a gradual exploration of the coding regions of the gene starting with the mutations richest regions and using a scanning technique (HRM / sequencing) or systematic sequencing by hand.
- Then, if this exploration is not successfull, a search for large rearrangements usually by CGH (Comparative Genomic Hybridization) technique or MPLA (Multiplex Ligation-Dependent Probe Amplification: 2% mutations).
Those complex techniques are mastered by few French expert laboratories for CF molecular genetics. The corresponding acts, coded "out of list," can not be billed and are performed on the operating and research budgets of these laboratories. The cost of such an investigation, depending on the activity and organization of laboratories, is about € 2,000.
Hope that answers your question.
Dr Gilles RAULT (with the contribution of Pr Claude FEREC) - 02.07.2013
