Service Centre category(ies)
Biobanks / Clinical Samples / Histology / Pathology
Clinical Genetics
Clinical Research / Clinical Trials
Genomics / Gene Expression Analysis / DNA Sequencing / DNA Synthesis / Real-Time PCR / Genotyping / Microarray
Description of the Service Centre
At the outpatient clinic, patients and families with genetic diseases are observed and counselled by a multi-disciplinary team. At our molecular genetics lab, diagnostic, carrier, presymptomatic and prenatal tests are available for a large number of diseases. A quality management system is in place, and a formal request for accreditation has already been filed to IPAQ. The DNA/cell-line bank storages many thousands of samples, coupled with clinical and pedigree data.
Service Centre web address
Contact person's name
Isabel Alonso
Contact person's e-mail
ialonso@ibmc.up.pt
Contact person's telephone
351226074942
Last edited on
2013-05-24 12:37:38
Service
Medical genetics clinic and genetic counseling
Available for external use?
Yes
Comments
Patients and families with genetic diseases are observed and counselled by a clinical geneticist. A specific protocol for counselling in the context of presymptomatic testing of late-onset neurological diseases is in place for relatives at-risk.
Service
Genetic testing for hereditary diseases
Available for external use?
Yes
Comments
Genetic tests for a large number of diseases, namely inherited ataxias, Huntington disease, spastic paraplegias, Wilson, Charcot-Marie-Tooth, amyloidosis, Parkinson, dementias, hemiplegic migraine, epilepsies, neurofibromatosis and several other.
Equipment
3130xl Genetic Analyzer
Service type: self-service or full-service?
Full-service
Equipment
Ion Torrent (Ion PGM™ Sequencer)
Service type: self-service or full-service?
Full-service