Orphanet: U.O.C. di Genetica Medica
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U.O.C. di Genetica Medica

  • Dipartimento Materno Infantile
  • A.O.U. Sant'Anna - Polo Chimico-Bio-Medico
  • Via Fossato di Mortara 74
  • 44121 FERRARA
  • ITALY
  • Status : Public
  • Phone : 39 0532 974403
  • Additional Phone : 39 0532 237773
  • Fax : 39 0532 236157
  • Website
  • Contact
  • EUGT number : EUGTIT273882

Quality management

EQA
 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

EQA scheme(s) organized by UKNEQAS

H&I Scheme 7
2017
H&I Scheme 8
2016, 2017
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.