Pesquisar um teste de diagnóstico
Contactos
- Profissionais: Dr Jaime TORRENTS
Gestão da qualidade
Acreditação
Acreditação
Organismo
Ano
Alcance de la acreditación
EQA
Esquema(s) de EQA organizado(s) por CEQAS
Rapid aneuploidy FISH
2015, 2016, 2017
Esquema(s) de EQA organizado(s) por EMQN
11p-Imprinting Disorder Scheme (BWS/SRS)
2018, 2019
ADPKD (Adult dominant polycystic kidney disease)
2018, 2019
AZF (Y-Chromosome microdeletions)
2015, 2016, 2017, 2018, 2019
CAH (Congenital Adrenal Hyperplasia)
2015, 2016, 2017, 2018, 2019
Cardiac genetics - arrthymias
2019
DFNB1 (Hereditary Deafness)
2019
DM (Myotonic dystrophy)
2015, 2016, 2017, 2018, 2019
DMD (Duchenne and Becker muscular dystrophies)
2015, 2016, 2017, 2018
FH (Familial hypercholesterolemia - pilot scheme)
2019
FRAX (Fragile X syndrome) - full scheme
2015, 2016, 2017, 2018, 2019
Germline NGS mutation testing
2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2015, 2016, 2017, 2018, 2019
HD (Huntington disease)
2015, 2016, 2017, 2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2019
MEN2 (Multiple Endocrine Neoplasia Type 2)
2015, 2016, 2017
Mitochondrial metabolic disorders
2018, 2019
Non-invasive prenatal testing (NIPT) for common aneuploidies
2017, 2018
Non-invasive prenatal testing (NIPT) for fetal sexing
2017, 2018
OI (Osteogenesis imperfecta)
2017
PWAS (Prader-Willi and Angelman syndromes)
2015, 2016, 2017, 2018, 2019
RB (Retinoblastoma)
2019
SEQ (DNA sequencing) - Full scheme
2016, 2017, 2018, 2019
WIL (Wilson disease)
2015
aCGH/ Microarrays
2015, 2016, 2017, 2018, 2019
ccfDNA (Cell free fetal DNA for sex determination)
2015, 2016
Esquema(s) de EQA organizado(s) por GenQA
Rapid Prenatal Aneuploidy FISH
2018
Informação adicional
Informação adicional
Os documentos contidos neste website são apresentação para efeitos apenas de informação. O material não substitui os cuidados médicos profissinais por um especialista profissional qualificado e não deve ser usado como base para diagnóstico ou tratamento.