Dónde hacerse el diagnóstico en Italia
Para información sobre centros diagnósticos en Italia, contáctenos.
El diagnóstico del Síndrome ReNU (RNU4-2) requiere la Secuenciación del Genoma Completo (WGS). El WES es insuficiente porque no detecta variantes intrónicas profundas del gen RNU4-2. Plazo medio: 2–4 semanas. Conoce el Síndrome ReNU.
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:
⚠️ Nota importante
¡En Italia, se necesita WGS para diagnosticar RNU4-2!
Para información sobre centros WGS en Italia:
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!