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SYNLAB Romania diagnoses rare condition, bringing relief to worried family in Bucharest

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At a clinic in Bucharest, Romania, a family is worried about the development of their child. Doctors have not been able to diagnose her condition. Very often conditions like this are genetic, so SYNLAB Romania consulted our geneticists.

Global Genetic Expertise

We are able to offer our state-of-the-art expertise across our global network, even to a family from a small town in Romania

SYNLAB ROMANIA | BUCHAREST

Cases like this are very hard to diagnose, because there are thousands of conditions that might be responsible, and until recently a lot of them would remain undiagnosed. But in Mannheim, we now have the capability to run a complete genetic sequence on a patient – so if there is a genetic variation, we’ll find it. 

SYNLAB Romania arranged for the family to see a genetic counsellor. Then a blood sample was sent to Mannheim, where it was run on SYNLAB’s high-throughput sequencing platform.

In this case, we diagnosed a condition so rare, most doctors will never have seen a patient with it. We were able to give a diagnosis, and help the doctor and the family to understand the implications.

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