Where to get Diagnosed in Italy
For information about diagnostic centers in Italy, contact us.
Section being updated
We are gathering the most up-to-date information on Italian centres that perform Whole Genome Sequencing (WGS) for the diagnosis of ReNU Syndrome. This section will be updated once the Scientific Committee has completed validation of the recommended diagnostic pathways.
In the meantime, to receive information on available diagnostic centres in Italy, you can contact us directly:
⚠️ Important Note
In Italy, Whole Genome Sequencing (WGS) is needed to diagnose RNU4-2. WES cannot detect it!
For information on WGS centers in Italy, contact us at:
WGS vs WES
WGS – Whole Genome Sequencing
Analyzes the entire DNA sequence, including non-coding genes like RNU4-2. REQUIRED to diagnose ReNU Syndrome.
WES – Whole Exome Sequencing
Only analyzes coding regions. CANNOT detect variants in RNU4-2!