Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

HOW TO TEST ON Y1092X

Question
Dear Mr/Mrs,

I am the mother of a 15-year old child that is suffering from CF. 1999 he was screened at the Hospital Rebro in Zagreb that is a referent center of such tests in Croatia. It was found that he is a heterozygote of a mutation DF508/N. In our center test is being performed on 33 mutations. My sister recently moved for a job to USA and had performed screening at one hospital in Huston since she is a host of a mutation too juist like me. They found a mutation Y1092X.
Is there any center in Europe that is performing screening for that particular mutation.

Sincerely,
Suzana Bartulovic, Rijeka, Croatia


Answer
Dear Ms Bartulovic,

We have received an information by Mrs Dragica Radojkovic, PhD, Head of the Sector for Laboratory Investigations / Head of Laboratory for Molecular Biology, IMGGE in Belgrade. She wrote:

"The mutation is uin the exon 20 (former exon 17b) and as my lab perform sequencing of the all exons and boundaries, we can perform the testing for Y1092X (on blood or buccal swab sample). This information could go to Mrs Bartulovic through Annette [Pfalz] or I could contact Mrs Bartulovic myself-please let me know. The CFTR testing is provided through Sector for Laboratory investigation ( I am the head of the Sector) which is accreditated (ISO 17025)."

As we do not want to publish the contact details of Mrs Radojkovic in the internet, we kindly ask you to contact us by e-mail. Please use the e-mail address that you find here in the "Impressum" of ECORN-CF:
ecorn-cf.eu/index.php?id=181&L=8


All the best,
Annette Pfalz for ECORN-CF
10.06.2014