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Servicio de Laboratorio
- Servicio de Medicina Genética y Molecular
- Hospital Sant Joan de Déu Barcelona
- Paseo de Sant Joan de Déu, 2
- 08950 ESPLUGUES DE LLOBREGAT
- SPAIN
- Status : Private non-for-profit
- Phone : 34 93 253 21 00
- Additional Phone : -
- Fax : -
- Website
- EUGT number : EUGTES58123
Contacts
- Director of laboratory : Dr Bonaventura RUIZ MONTASELL
- Professionals : Dr Adrian ALCALÁ SAN MARTIN, Dr Judith ARMSTRONG MORON, Dr Loreto MARTORELL SAMPOL, Dr Delia YUBERO
Quality management
EQA
EQA scheme(s) organized by EMQN
11p-Imprinting Disorder Scheme (BWS/SRS)
2019
CMT (Charcot-Marie-Tooth disease)
2019
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2019
DFNB1 (Hereditary Deafness)
2017
DM (Myotonic dystrophy)
2015, 2017, 2019
DMD (Duchenne and Becker muscular dystrophies)
2017
DNA-SEQ (Full)
2015
FRAX (Fragile X syndrome) - full scheme
2015, 2017
FRDA (Friedreich ataxia)
2015, 2017
Germline NGS mutation testing
2019
HD (Huntington disease)
2020
PWAS (Prader-Willi and Angelman syndromes)
2016
SCA (Spinocerebellar ataxias)
2019
SEQ (DNA sequencing) - Full scheme
2015
SMA (Spinal muscular atrophy)
2019
aCGH/ Microarrays
2018, 2019
EQA scheme(s) organized by GenQA
Blood -postnatal
2018
Epilepsy disorders
2020, 2021
IPS stem cells exploratory
2019, 2020, 2021
Pathogenicity of germline sequence variants (Classification & Interpretation)
2021
Postnatal constitutional Copy Number Variant (CNV) detection
2020
Prenatal karyotyping
2021
Additional information
Further information
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.