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Zentrum Medizinische Genetik Innsbruck
Contactos
- Diretor do laboratório: Prof Johannes ZSCHOCKE
- Diretor do departamento: Prof Johannes ZSCHOCKE
- Gestor da qualidade: Ms Anette ZEILNER
- Profissionais: Dr Christine FAUTH, Prof Sabine RUDNIK-SCHÖNEBORN, Dr Anna SCHOSSIG, Prof Katharina WIMMER, Prof Martina WITSCH-BAUMGARTNER, Prof Johannes ZSCHOCKE
Gestão da qualidade
Acreditação
Acreditação
Organismo
Ano
Alcance de la acreditación
EQA
Esquemas EQA organizados por CF Network
CF (Cystic fibrosis)
2015, 2017, 2019
Esquemas EQA organizados por EMQN
AZF (Y-Chromosome microdeletions)
2016, 2018
BRCA (Familial breast cancer) - full scheme
2015, 2017, 2019
BWS Beckwith-Wiedemann syndrome (Pilot)
2015
BWS/SRS (Beckwith-Wiedemann and Silver-Russell syndromes)
2017, 2019
CAH (Congenital Adrenal Hyperplasia)
2016, 2018
CMT (Charcot-Marie-Tooth disease)
2017, 2019
Cardiac genetics - arrhythmias
2018
DFNB1 (Hereditary Deafness)
2015, 2019
DM (Myotonic dystrophy)
2018
DMD (Duchenne and Becker muscular dystrophies)
2015, 2016, 2018
FAP (Familial Adenomatous Polyposis Colon Cancer)
2018
FH (Familial hypercholesterolemia - pilot scheme)
2015
FH (Familial hypercholesterolemia)
2017, 2019
FRAX (Fragile X syndrome) - Full scheme
2015, 2017, 2019
FRDA (Friedreich ataxia)
2015, 2017, 2019
HD (Huntington disease)
2016, 2018
HFE (Hereditary hemochromatosis)
2016
HNPCC (Hereditary non-polyposis colon cancer)
2016, 2018
HRF (Hereditary Recurrent Fevers)
2017, 2019
MEN2 (Multiple Endocrine Neoplasia Type 2)
2017, 2019
Molecular testing of somatic changes in BRCA genes for ovarian cancer
2017
NEXTGEN (NextGen DNA Sequencing - v Germline)
2015, 2016, 2017, 2019
OI (Osteogenesis imperfecta)
2018
POR (Porphyria)
2015, 2017, 2019
PWAS (Prader-Willi and Angelman syndromes)
2015, 2016, 2018
SCA (Spinocerebellar ataxias)
2016, 2018
SEQ (DNA sequencing) - Full scheme
2015, 2016, 2017, 2019
SHOX (Short stature homeobox gene testing)
2016, 2018
SMA (Spinal muscular atrophy)
2015, 2019
SRS (Silver Russell syndrome)
2015
VHL (Von Hippel Lindau syndrome)
2015, 2017, 2019
WIL (Wilson disease)
2015, 2017, 2019
aCGH/ Microarrays
2019
Informação adicional
Atividades desta instituição
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