Suche Einrichtung
Servicio de Genética Clínica
- Hospital Universitario Fundación Jiménez Díaz
- Avenida Reyes Católicos, 2
- 28040 MADRID
- SPANIEN
- Status : Private non-for-profit
- Telefonnr. : 34 915 50 48 72
- Zusätzl. Telefonnr. : -
- Fax : 34 915 44 87 35
- Website
- EUGT-Nummer : EUGTES66562
Kontakt
- Leiter der Einrichtung: Dr Carmen AYUSO
- Qualitäts-Manager : Dr Ruth FERNÁNDEZ
- Fachleute: Dr Ana ARTECHE LÓPEZ, Dr Carmen AYUSO, Dr Fiona BLANCO KELLY, Dr Ana BUSTAMANTE ARAGONÉS, Lidia FERNANDEZ-CABALLERO PALOMEQUE, Dr Isabel LORDA SÁNCHEZ, Dr Fermina LÓPEZ GRONDONA, Dr Rosa RIVEIRO ALVAREZ, Dr Marta RODRÍGUEZ DE ALBA FREIRÍA, Dr Carolina SANCHEZ JIMENO, Dr Ana Isabel SÁNCHEZ BARBERO, Dr Saoud TAHSIN SWAFIRI, Dr María José TRUJILLO TIEBAS, Dr Almudena ÁVILA FERNÁNDEZ
Qualitätsmanagement
EQA
EQA organisiert von 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 organisiert von CF Network
CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019, 2020, 2021, 2022
EQA organisiert von 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
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 organisiert von GenQA
Amniotic fluid
2018, 2019, 2020
Blood -postnatal
2018
Chorionic Villus
2018, 2019, 2020
Clinical Genetics - Dysmorphology
2020, 2021
Clinical Genetics - Monogenic Disorders
2020, 2021
Clinical Genetics - Oncogenetics
2020, 2021
Clinical Genetics -Cardiovascular Disorders
2020, 2021
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
Next Generation Sequencing (NGS) germline
2019
Non-invasive prenatal testing for sexing pilot
2018
Postnatal constitutional Copy Number Variant (CNV) detection
2019, 2020, 2021
Preimplantation Genetic Testing (PGT) for monogenic disorders
2019, 2020, 2021
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
Preimplantation genetic testing (PGT) of Blastomere (FISH)
2019, 2020, 2021
Prenatal constitutional CNV detection (previously Prenatal microarray)
2018
Prenatal constitutional Copy Number Variant (CNV) detection
2019, 2020, 2021
Prenatal karyotyping
2021
Rapid Prenatal Testing for common aneuploidies
2019, 2020, 2021
Zusatzinformationen
Leistungsangebote dieser Einrichtung
Die Dokumente dieser Website dienen nur der allgemeinen Information. Der Inhalt dieser Website ersetzt in keiner Weise eine professionelle Beratung oder Behandlung durch qualifizierte Fachleute. Die vorliegenden Informationen dürfen nicht als Grundlage für eine Diagnose oder Behandlung verwendet werden.