Búsqueda de una prueba diagnóstica
Contactos
- Profesionales: Pr Sabina GALLATI, Dr Franziska JONCOURT, Dr André SCHALLER
Control de calidad
Acreditación
Acreditación
Entidad
Año
Alcance de la acreditación
EQA
EQA organizado por CEQAS
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA)
2015, 2016
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA/BoBs)
2017
PGD polar body microarray
2017
Pilot PGD polar body microarray
2016
EQA organizado por CF Network
CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019, 2020, 2021, 2022
EQA organizado por EMQN
AZF (Y-Chromosome microdeletions)
2016, 2017, 2018, 2019
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2016, 2017, 2018, 2019
DFNB1 (Hereditary Deafness)
2016, 2017, 2018
DMD (Duchenne and Becker muscular dystrophies)
2016, 2017, 2018, 2019
FRAX (Fragile X syndrome) - full scheme
2016, 2017, 2018, 2019
Germline NGS mutation testing
2016, 2017
HFE (Hereditary hemochromatosis)
2016, 2017, 2018, 2019
Mitochondrial metabolic disorders
2017
PWAS (Prader-Willi and Angelman syndromes)
2016, 2017, 2018, 2019
SEQ (DNA sequencing) - Full scheme
2016, 2017, 2018, 2019
SMA (Spinal muscular atrophy)
2016, 2017, 2018, 2019
WIL (Wilson disease)
2016, 2017, 2018, 2019
aCGH/ Microarrays
2017
EQA organizado por GenQA
Arrhythmia
2018
Cardiac Disorders
2020
Cardiomyopathies
2018
Charcot Marie Tooth disease (CMT) and related sensory and motor neuropathies
2020
Eye Disorders
2020
Fragile X syndrome and FMR1-related disorders
2020
Mitochondrial disease
2020
Mitochondrial diseases (including POLG)
2018
Muscular Dystrophies
2020
NGS germline pilot
2018
Next Generation Sequencing (NGS) germline
2020
Pathogenicity of germline sequence variants (Classification & Interpretation)
2020
Pathogenicity of sequence variant (interp)
2018
Preimplantation Genetic Testing (PGT) for monogenic disorders
2019, 2020
mtDNA Mitochondrial metabolic disorders
2018
Información adicional
Más información este test
Toda la información y documentos presentes en este portal tienen como único propósito el de informar. No pretenden de ningún modo sustituir el cuidado y asesoramiento de un médico especialista. Este material, por tanto, no debería usarse como base para el diagnóstico y tratamiento