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U.O.C. di Genetica Medica
Contacts
- Director of laboratory: Pr Alessandra FERLINI
- Quality manager : Dr Alessandra BALBONI
- Professionals: Dr Sandra ALBERTI, Dr Claudia BENINI, Dr Stefania BIGONI, Pr Alessandra FERLINI, Dr Sergio FINI, Dr Francesca GUALANDI, Dr Loredana MELCHIORRI, Dr Marcella NERI, Dr Paola RIMESSI
Quality management
EQA
EQA scheme(s) organized by CEQAS
Amniotic Fluid
2016
CVS
2015, 2016, 2017
Constitutional microarray (postnatal)
2015, 2017
Genetic Counselling -Cardiovascular genetics
2015, 2016, 2017
Genetic Counselling -Dysmorphology
2015, 2016, 2017
Genetic Counselling -Monogenic disorder
2015, 2016, 2017
Genetic Counselling -Oncogenetics
2015, 2016, 2017
EQA scheme(s) organized by CF Network
CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019
EQA scheme(s) organized by EMQN
AZF (Y-Chromosome microdeletions)
2015, 2016
BRCA (Familial breast cancer) - genotyping
2015, 2016, 2017, 2018
CMT (Charcot-Marie-Tooth disease)
2015, 2016, 2017
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2017, 2018, 2019
DFNB1 (Hereditary Deafness)
2015, 2016, 2017, 2018, 2019
DMD (Duchenne and Becker muscular dystrophies)
2015, 2016, 2017, 2018, 2019
FRAX (Fragile X syndrome) - Full scheme
2015, 2016, 2017, 2018, 2019
FRDA (Friedreich ataxia)
2015, 2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2017, 2018, 2019
HD (Huntington disease)
2015, 2016, 2017, 2018, 2019
PWAS (Prader-Willi and Angelman syndromes)
2015, 2016, 2017, 2018, 2019
SCA (Spinocerebellar ataxias)
2018, 2019
SEQ (DNA sequencing) - Full scheme
2015, 2016, 2017, 2018
SMA (Spinal muscular atrophy)
2015, 2016, 2017, 2018, 2019
EQA scheme(s) organized by GenQA
Amniotic Fluid
2018
Constitutional microarray (postnatal)
2018
Genetic Counselling -Cardiovascular genetics
2018
Genetic Counselling -Dysmorphology
2018
Genetic Counselling -Monogenic Disorders
2018
Genetic Counselling -Oncogenetics
2018
Additional information
Activities of this institution
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