Where to get Diagnosed in Italy
For information about diagnostic centers in Italy, contact us.
⚠️ 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!