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Service Centre

Center for Predictive and Preventive Genetics

IBMC - Institute for Molecular and Cell Biology

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

http://www.testegenetico.com/

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

Services

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.

Equipments

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

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