Orphanet: Servicio de Gen�tica Cl�nica
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Servicio de Gentica Clnica

  • Hospital Universitario Fundacin Jimnez Daz
  • Avenida Reyes Catlicos, 2
  • 28040 MADRID
  • SPAIN
  • Status : Private non-for-profit
  • Phone : 34 915 50 48 72
  • Additional Phone : -
  • Fax : 34 915 44 87 35
  • Website
  • EUGT number : EUGTES66562

Quality management

EQA
 EQA

EQA scheme(s) organized by CEQAS

Amniotic Fluid
2015, 2016, 2017
Bloods - Postnatal
2015, 2016, 2017
CVS
2015, 2016, 2017
Constitutional microarray (postnatal)
2016, 2017
FISH PGD (Blastomere)
2015, 2016, 2017
Genetic Counselling -Cardiovascular genetics
2016, 2017
Genetic Counselling -Dysmorphology
2016, 2017
Genetic Counselling -Monogenic disorder
2016, 2017
Genetic Counselling -Oncogenetics
2016, 2017
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA)
2015, 2016
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA/BoBs)
2017
Prenatal microarray
2017
Rapid aneuploidy FISH
2015, 2016

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, 2017
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2015
Cardiac genetics - Hypertrophic cardiomyopathies
2018
Cardiac genetics - arrthymias
2018, 2019
DFNB1 (Hereditary Deafness)
2019
DM (Myotonic dystrophy)
2015, 2016, 2017
DMD (Duchenne and Becker muscular dystrophies)
2015, 2016, 2018
FAP (Familial Adenomatous Polyposis Colon Cancer)
2015, 2016
FRAX (Fragile X syndrome) - full scheme
2014, 2015, 2016
FRDA (Friedreich ataxia)
2015, 2016, 2018
Germline NGS mutation testing
2015, 2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2015, 2016, 2017, 2018
HD (Huntington disease)
2015, 2017, 2018
HFE (Hereditary hemochromatosis)
2015
HNPCC (Hereditary non-polyposis colon cancer)
2015, 2016
MEN2 (Multiple Endocrine Neoplasia Type 2)
2015, 2016
Mitochondrial metabolic disorders
2019
PWAS (Prader-Willi and Angelman syndromes)
2015, 2016, 2017
SCA (Spinocerebellar ataxias)
2015, 2016, 2017, 2018, 2019
SEQ (DNA sequencing) - Full scheme
2015, 2016, 2018, 2019
SHOX (Short stature homeobox gene testing)
2015, 2016, 2017
SMA (Spinal muscular atrophy)
2015, 2017, 2018, 2019
VHL (Von Hippel Lindau syndrome)
2015, 2016
aCGH/ Microarrays
2015

EQA scheme(s) organized by GenQA

Amniotic fluid
2018
Blood -postnatal
2018
Chorionic Villus
2018
Constitutional microarray (postnatal)
2018
Genetic Counselling -Cardiovascular Genetics
2018
Genetic Counselling -Dysmorphology
2018
Genetic Counselling -Monogenic Disorders
2018
Genetic Counselling -Oncogenetics
2018
Molecular Rapid Aneuploidy (MRA)
2018
Non-invasive prenatal testing for sexing pilot
2018
Preimplantation Genetic Testing for Blastomere FISH (Stage 1 & 2)
2018
Preimplantation Genetic Testing for monogenic disorders Stage 1
2018
Preimplantation Genetic Testing for monogenic disorders Stage 2
2018
Prenatal constitutional CNV detection (previously Prenatal microarray)
2018
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.