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LabGenetics
Contacts
- Director of laboratory: Dr Jorge PUENTE PRIETO
- Director of department: Dr Angela SESTO YAGÜE
- Quality manager : Dr Marta VALLS OYARZUN
- Professionals: Dr Patricia GILARDI NAVARRO, Dr Jorge PUENTE PRIETO, Dr Angela SESTO YAGÜE
Quality management
EQA
EQA scheme(s) organized by EMQN
11p-Imprinting Disorder Scheme (BWS/SRS)
2017, 2019
ADPKD (Adult dominant polycystic kidney disease)
2015, 2017, 2019
CAH (Congenital Adrenal Hyperplasia)
2015, 2017, 2019
CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2015, 2017
DM (Myotonic dystrophy)
2017, 2018
FAP (Familial Adenomatous Polyposis Colon Cancer)
2017, 2018
FH (Familial hypercholesterolemia - pilot scheme)
2017
FRDA (Friedreich ataxia)
2015, 2017, 2018
Germline NGS mutation testing
2015, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2018
HD (Huntington disease)
2015, 2017, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2017, 2019
HRF (Hereditary Recurrent Fevers)
2017
MEN2 (Multiple Endocrine Neoplasia Type 2)
2017, 2019
MonoDiab (Monogenic Diabetes)
2017, 2018
OI (Osteogenesis imperfecta)
2017, 2018
PWAS (Prader-Willi and Angelman syndromes)
2017, 2018
SCA (Spinocerebellar ataxias)
2015, 2017
SEQ (DNA sequencing) - Full scheme
2015, 2017, 2018, 2019
SHOX (Short stature homeobox gene testing)
2017, 2018, 2019
SMA (Spinal muscular atrophy)
2017, 2019
WIL (Wilson disease)
2015, 2017
Additional information
Activities of this institution
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.