CGPP - Center for Predictive and Preventive Genetics

CGPP - Center for Predictive and Preventive Genetics, CGPP
IBMC - Institute for Cell and Molecular Biology (IBMC)
Department: CGPP - Center for Predictive and Preventive Genetics
Rua Júlio de Amaral Carvalho, nº 45
Porto, Porto, Portugal 4200-135
Phone: +351 22 607 4942
Fax: +351 226 002 923
Email: contacto.cgpp@ibmc.up.pt
Online Contact: https://www.testegenetico.com/contactos/
Website: http://www.cgpp.pt

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GTR Lab ID: 507011, Last updated:2023-12-19

Personnel

Director: Jorge Oliveira, PhD, Lab Director
Email: jmoliveira@ibmc.up.pt
Director: João Parente Freixo, MD, MBA, Medical Director
Email: joao.freixo@ibmc.up.pt
Director: Jorge Sequeiros, PhD, MD, Medical Director
Phone: +351 22 607 4942
Email: jorge.sequeiros@ibmc.up.pt
Álvaro Mendes, PhD, Genetic Counselor
Email: alvaro.mendes@ibmc.up.pt
Maria João Nabais Sá, PhD, MD, Staff
Email: mnabaissa@i3s.up.pt
Milena Paneque, PhD, Genetic Counselor
Phone: +351 22 607 4942
Email: milenaph@ibmc.up.pt
Graça Porto, PhD, MD, Medical Director
Email: gporto@ibmc.up.pt

Conditions and tests

30 conditions/phenotypes with 41 tests
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Alzheimer disease1 test
Amyloidosis, hereditary systemic 11 test
Azorean disease1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type X2 tests
Charcot-Marie-Tooth disease, type IA1 test
Deafness, digenic, GJB2/GJB62 tests
Dejerine-Sottas disease1 test
Dentatorubral-pallidoluysian atrophy2 tests
Disorder of iron metabolism and transport1 test
Friedreich ataxia1 test
Frontotemporal dementia1 test
Hereditary liability to pressure palsies2 tests
Hereditary spastic paraplegia 42 tests
Huntington disease1 test
Huntington disease-like 21 test
Machado-Joseph disease type 11 test
Neurofibromatosis, type 12 tests
Neurofibromatosis, type 22 tests
Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive2 tests
Oculopharyngeal muscular dystrophy1 test
Osteogenesis imperfecta4 tests
Spinocerebellar ataxia 72 tests
Spinocerebellar ataxia type 12 tests
Spinocerebellar ataxia type 101 test
Spinocerebellar ataxia type 121 test
Spinocerebellar ataxia type 172 tests
Spinocerebellar ataxia type 22 tests
Spinocerebellar ataxia type 62 tests
Wilson disease2 tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
DNA Banking
Data Storage and Backup
Genetic counseling
Mutation Confirmation
Result interpretation
Whole Exome Sequencing

List of certifications/licenses

Certifications

EMQN, Number: 4367
ISO15189, Number: E0013

Participation in external programs

Standardization programs

Mutation-specific Databases
Other

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