Orphanet: Servicio de Genética Clínica
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Servicio de Genética Clínica

  • Hospital Universitario Fundación Jiménez Díaz
  • Avenida Reyes Católicos, 2
  • 28040 MADRID
  • ESPANHA
  • Estado : Privado sens fins lucrativos
  • Contacto telefónico : 34 915 50 48 72
  • Contacto telefónico adicional : -
  • Fax : 34 915 44 87 35
  • Website
  • número EUGT : EUGTES66562

Gestão da qualidade

EQA EQA

Esquemas EQA organizados por 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

Esquemas EQA organizados por CF Network

CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019

Esquemas EQA organizados por 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

Esquemas EQA organizados por 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
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.