Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

9 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Diagnosis of parkinsonian disorder (Panel)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Dementia with or without ALS (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques, Whole Exome Sequencing (WES)

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Diagnosis of Parkinson disease (gene panel)
Amsterdam UMC, locatie VUmc
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques, Whole Exome Sequencing (WES)

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Diagnosis of Parkinson disease (ATP13A2, DNAJC6, EIF4G1, GBA, LRRK2, HTRA2, PARK2, PARK7, PINK1, VPS35, SNCA genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of young adult-onset Parkinsonism (PINK1, LRRK2, PARK7, PARK2 GIGYF2, VPS35, EIF4G1 genes)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Baden-Württemberg
FREIBURG

Diagnosis of hereditary late-onset Parkinson disease (EIF4G1, GBA, LRRK2, SNCA, VPS35 genes)
Institut für Humangenetik am Universitätsklinikum Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Madrid
TRES CANTOS

Diagnosis of Parkinson disease and frontotemporal dementia (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
TRES CANTOS

Diagnosis of rare parkinsonian disorder (panel)
Centro de estudios genéticos ATG Medical
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of rare genetic parkinsonian disorder (panel)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)