Laboratorio de Genética
- Servicio de Laboratorios Clínicos
- Hospital Universitari Vall d'Hebron
- Paseo Vall d'Hebron, 119-129
- 08035 BARCELONA
- SPAIN
- Status : Public
- Telefon : 34 934 893 000 ext. 6898
- Dodatkowy telefon : -
- Fax : -
- Strona internetowa
- Kontakt
email- EUGT number : EUGTES423682
Kontakt
- Kierownik laboratorium: Dr Elena GARCÍA-ARUMÍ
- Director of department: Dr Eduardo TIZZANO FERRARI
- Quality manager : Dr Maria Carmen PERICH ALSINA
- Professionals: Dr María ANTOLÍN MATE, Dr Roger COLOBRAN, Dr Orland DIEZ GIBERT, Dr Paula FERNÁNDEZ ÁLVAREZ, Dr Elena GARCÍA-ARUMÍ, Dr Javier HERNÁNDEZ LOSA, Dr Alberto PLAJA RUSTEIN, Dr Guillermo TARRASÓ URIOS, Dr Eduardo TIZZANO FERRARI, Dr María del Mar XUNCLA LLORET
Dane dotyczące zarządzania jakością
EQA
EQA scheme(s) organized by CEQAS
Amniotic Fluid
2015, 2016, 2017
Bloods - Postnatal
2016, 2017
CVS
2016, 2017
Constitutional microarray (postnatal)
2016, 2017
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA)
2016
MRA (Molecular Rapid Aneuploidy - QF-PCR/MLPA/BoBs)
2017
Prenatal array exploratory pilot and survey
2015
Prenatal microarray
2016, 2017
EQA scheme(s) organized by CF Network
CF (Cystic fibrosis)
2015, 2016, 2017, 2018, 2019, 2020, 2021, 2022
EQA scheme(s) organized by EMQN
11p-Imprinting Disorder Scheme (BWS/SRS)
2018, 2019
BRAF (Molecular testing for malignant melanoma)
2015, 2016
CAH (Congenital Adrenal Hyperplasia)
2017, 2018, 2019
Cardiac genetics - arrthymias
2018, 2019
DFNB1 (Hereditary Deafness)
2017, 2018, 2019
EGFR (Molecular testing for non small cell lung cancer)
2015, 2016
FRAX (Fragile X syndrome) - full scheme
2017, 2018, 2019
Germline NGS mutation testing
2017, 2018
HBOC (Hereditary Breast and Ovarian Cancer testing)
2015, 2017, 2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2018, 2019
HRF (Hereditary Recurrent Fevers)
2017, 2018, 2019
KRAS (Molecular testing for sporadic colorectal cancer)
2015, 2016
Mitochondrial metabolic disorders
2017, 2018, 2019
Molecular testing of somatic changes in BRCA genes for ovarian cancer
2018, 2019
Non-invasive prenatal testing (NIPT) for common aneuploidies
2019
PWAS (Prader-Willi and Angelman syndromes)
2018, 2019
SEQ (DNA sequencing) - Full scheme
2017, 2018, 2019
SHOX (Short stature homeobox gene testing)
2017, 2018, 2019
Somatic NGS mutation testing
2019
WIL (Wilson disease)
2018, 2019
EQA scheme(s) organized by GenQA
Amniotic fluid
2018, 2019, 2020
BRCA testing for ovarian, breast, prostate and pancreatic cancer - germline
2019, 2020, 2021
BRCA testing in ovarian cancer - germline pilot
2018
BRCA testing in ovarian cancer - somatic
2019, 2020, 2021
BRCA testing in ovarian cancer - somatic pilot
2018
Blood -postnatal
2018
Cardiac Disorders
2019, 2021
Chorionic Villus
2018, 2019, 2020
Clinical Genetics - Cardiovascular Disorders
2019, 2020, 2021
Clinical Genetics - Dysmorphology
2019, 2020, 2021
Clinical Genetics - Monogenic Disorders
2019, 2020, 2021
Constitutional microarray (postnatal)
2018
Disorders of Sexual Development (DSD)
2021
Exome Sequencing Data Interpretation
2021
Genetic counselling
2021
Mitochondrial disease
2019, 2020, 2021
Molecular Rapid Aneuploidy (MRA)
2018
Neurofibromatosis and Rasopathies
2021
Pathogenicity of germline sequence variants (Classification & Interpretation)
2019, 2020, 2021
Pathogenicity of sequence variant (interp)
2018
Postnatal constitutional Copy Number Variant (CNV) detection
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
Variant Validation
2021
Dodatkowe informacje
Activities of this institution
Dokumenty zawarte w niniejszej witrynie internetowej są przedstawione wyłącznie w celach informacyjnych. Materiał nie jest w żaden sposób przeznaczony do wymiany profesjonalnej opieki medycznej przez wykwalifikowanego specjalistę i nie powinien być używany jako podstawa do diagnozowania lub leczenia.