Pesquisar um teste de diagnóstico
Contactos
- Diretor do laboratório: Dr Ralf GLAUBITZ
- Profissionais: Dr Ingolf BÖHM, Dr Ralf GLAUBITZ, Dr Anna TEUBERT
Gestão da qualidade
Acreditação
Acreditação
Organismo
Ano
Alcance de la acreditación
EQA
Esquema(s) de EQA organizado(s) por CF Network
CF (Cystic fibrosis)
2017, 2018, 2019
Esquema(s) de EQA organizado(s) por EMQN
AZF (Y-Chromosome microdeletions)
2016, 2017, 2018, 2019
BRAF (Molecular testing for malignant melanoma)
2019
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2016, 2017, 2018, 2019
Cardiac genetics - Hypertrophic cardiomyopathies
2018, 2019
Cardiac genetics - arrthymias
2018, 2019
DFNB1 (Hereditary Deafness)
2016, 2017, 2018, 2019
DMD (Duchenne and Becker muscular dystrophies)
2019
EGFR (Molecular testing for non small cell lung cancer)
2016, 2017, 2018, 2019
FAP (Familial Adenomatous Polyposis Colon Cancer)
2019
FH (Familial hypercholesterolemia - pilot scheme)
2016, 2017, 2018, 2019
FRAX (Fragile X syndrome) - full scheme
2018, 2019
Germline NGS mutation testing
2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2016, 2017, 2018, 2019
HD (Huntington disease)
2019
HFE (Hereditary hemochromatosis)
2018
HNPCC (Hereditary non-polyposis colon cancer)
2016, 2017, 2018, 2019
HRF (Hereditary Recurrent Fevers)
2016, 2017, 2018, 2019
KRAS (Molecular testing for sporadic colorectal cancer)
2017, 2018, 2019
MEN2 (Multiple Endocrine Neoplasia Type 2)
2016, 2017, 2018, 2019
Molecular testing of germline changes in BRCA genes for ovarian cancer
2017, 2018, 2019
Molecular testing of somatic changes in BRCA genes for ovarian cancer
2017, 2018, 2019
MonoDiab (Monogenic Diabetes)
2016, 2017, 2018, 2019
Non-invasive prenatal testing (NIPT) for common aneuploidies
2018, 2019
Non-invasive prenatal testing (NIPT) for fetal sexing
2018
OI (Osteogenesis imperfecta)
2016, 2017, 2018, 2019
ONCOPANEL (Oncogene panel testing) - pilot scheme
2017, 2018
PWAS (Prader-Willi and Angelman syndromes)
2016, 2017, 2018, 2019
RYR1 related disorders
2019
SEQ (DNA sequencing) - Full scheme
2017, 2018, 2019
SHOX (Short stature homeobox gene testing)
2016, 2017, 2018, 2019
SMA (Spinal muscular atrophy)
2017, 2018, 2019
Somatic NGS mutation testing
2019
Stickler syndrome
2019
VHL (Von Hippel Lindau syndrome)
2016, 2017, 2018, 2019
WIL (Wilson disease)
2018, 2019
aCGH/ Microarrays
2016, 2017
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.