Service Centre category(ies)
Description of the Service Centre
The Molecular Diagnostics unit at ICVS provides molecular diagnostics of genetic disorders, namely of a neurodevelopmental nature (intellectual disability, epilepsy) but also encompassing malformations. We perform genomewide analysis of Copy Number Variations using Array Comparative Genomic Hybridization (aCGH), also known as molecular karyotyping, as well as gene-specific sequence or dosage analysis. We offer analysis of specific genes but also develop novel assays on demand.
Service Centre web address
http://www.icvs.uminho.pt/scientificservices/moleculardiagnostics/default.aspx
Contact person's name
Patrícia Maciel / Fernando Rodrigues
Contact person's e-mail
pmaciel@ecsaude.uminho.pt / frodrigues@ecsaude.uminho.pt
Contact person's telephone
+351 253 604 824 / +351 604 814
Last edited on
2013-07-30 15:35:56
Service
Molecular Diagnostics
Available for external use?
Yes
Comments
Possibility of development of novel molecular tests on demand.