Búsqueda de una prueba diagnóstica
Contactos
- Profesionales: Dr Jaime TORRENTS
Control de calidad
Acreditación
Acreditación
Entidad
Año
Alcance de la acreditación
EQA
EQA organizado por CEQAS
Rapid aneuploidy FISH
2015, 2016, 2017
EQA organizado por EMQN
11p-Imprinting Disorder Scheme (BWS/SRS)
2018, 2019
ADPKD (Adult dominant polycystic kidney disease)
2018, 2019
AZF (Y-Chromosome microdeletions)
2015, 2016, 2017, 2018, 2019
CAH (Congenital Adrenal Hyperplasia)
2015, 2016, 2017, 2018, 2019
Cardiac genetics - arrthymias
2019
DFNB1 (Hereditary Deafness)
2019
DMD (Duchenne and Becker muscular dystrophies)
2015, 2016, 2017, 2018
FH (Familial hypercholesterolemia - pilot scheme)
2019
FRAX (Fragile X syndrome) - full scheme
2015, 2016, 2017, 2018, 2019
Germline NGS mutation testing
2016, 2017, 2018, 2019
HBOC (Hereditary Breast and Ovarian Cancer testing)
2015, 2016, 2017, 2018, 2019
HD (Huntington disease)
2015, 2016, 2017, 2018, 2019
HNPCC (Hereditary non-polyposis colon cancer)
2019
MEN2 (Multiple Endocrine Neoplasia Type 2)
2015, 2016, 2017
Mitochondrial metabolic disorders
2018, 2019
Non-invasive prenatal testing (NIPT) for common aneuploidies
2017, 2018
Non-invasive prenatal testing (NIPT) for fetal sexing
2017, 2018
OI (Osteogenesis imperfecta)
2017
PWAS (Prader-Willi and Angelman syndromes)
2015, 2016, 2017, 2018, 2019
RB (Retinoblastoma)
2019
SEQ (DNA sequencing) - Full scheme
2016, 2017, 2018, 2019
WIL (Wilson disease)
2015
aCGH/ Microarrays
2015, 2016, 2017, 2018, 2019
ccfDNA (Cell free fetal DNA for sex determination)
2015, 2016
EQA organizado por GenQA
Amniotic fluid
2019, 2020
Ataxia and spastic paraplegia
2020, 2021
Cardiac Disorders
2020, 2021
Chorionic Villus
2019, 2020
Chronic Lymphocytic Leukaemia (CLL) IGHV mutation status
2020
Clinical Genetics - Cardiovascular Disorders
2021
Cystic Fibrosis (CF) and CFTR-related disorders
2020, 2021
Dementia/ALS
2019
Disorders of Sex Development (DSD)
2020
Epilepsy disorders
2020, 2021
Familial Colorectal Cancer and Polyposis
2020, 2021
Familial endocrine tumour predisposition disorders
2020, 2021
Gastrohepatology disorders
2021
Hereditary Breast and Ovarian Cancer (HBOC) disorders
2020
Hypotonic Infant
2020
Imprinting disorders
2020, 2021
Inborn Errors of Metabolism
2021
Microdeletion syndromes
2020, 2021
Mitochondrial disease
2020, 2021
Muscular Dystrophies
2020, 2021
Myeloid Disorders
2020, 2021
Myeloma
2020, 2021
Neurodegenerative Disorders
2020, 2021
Neurofibromatosis and Rasopathies
2020, 2021
Pathogenicity of germline sequence variants (Classification & Interpretation)
2019, 2020, 2021
Prenatal constitutional Copy Number Variant (CNV) detection
2019, 2020, 2021
Prenatal karyotyping
2021
Primary Immunodeficiency disorders (PID)
2021
Rapid Prenatal Aneuploidy FISH
2018
Rapid Prenatal Testing for common aneuploidies
2019, 2020, 2021
Renal Disorders
2020, 2021
Respiratory disorders
2021
Sex chromosome disorders karyotyping
2021
Skeletal dysplasia
2020, 2021
Información adicional
Más información este test
Toda la información y documentos presentes en este portal tienen como único propósito el de informar. No pretenden de ningún modo sustituir el cuidado y asesoramiento de un médico especialista. Este material, por tanto, no debería usarse como base para el diagnóstico y tratamiento