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genetic test
- Question
- My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified.
I would like to know if there is any possibility to repeat this genetic test (for free?), for G551D mutation. Is the Ivacaftor treatment available in Romania? I know it is very expensive and it is used in the UK, USA, for G551D mutation. - Answer
- Hello
Usually, in the result of the genetic tests, the mutations found are clearly stated; a panel of 29 mutations includes F508 del mutation and G551D mutation. Currently there are over 1400 mutations discovered around the world, but the extended test are not free.
In our country the drug you mentioned is not available yet; in our National Center data, only one existing patient with this mutation-G551 D was reported.
It is possible that, in your child case, the other mutation was not included in the laboratory kit performed.
If you have any more questions, please feel free to ask.
Best regards,
Dr Ioana Ciuca - 08.04.2014
