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Service Centre

Molecular Diagnostics

Life and Health Science Research Institute (ICVS)

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

Contact person's name

Patrícia Maciel / Fernando Rodrigues

Contact person's e-mail /

Contact person's telephone

+351 253 604 824 / +351 604 814

Last edited on

2013-07-30 15:35:56



Molecular Diagnostics

Available for external use?



Possibility of development of novel molecular tests on demand.

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