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FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Search for mutation in NLGN4X and NLGN3 genes in case of intellectual disability with autism
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

CENTRE-VAL DE LOIRE
TOURS

Accreditation
Molecular diagnosis of intellectual deficiency related to PTCHD1 gene
CHRU de Tours - Hôpital Bretonneau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of predisposition to autism (NLGN3, NLGN4X, NRXN1 genes)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of predisposition to autism (NLGN3, NLGN4X genes: sequencing)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Autism Spectrum Disorder (SHANK3 and HEPACAM gene)
VUmc - VU medisch centrum
Purpose(s) : Antenatal diagnosis, 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) : Sanger sequencing, MLPA based techniques

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of intellectual disability (Panel)
Faculté de médecine et de pharmacie de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of susceptibility to X-linked autism (MECP2 gene)
BURC Genetics Diagnostic Center
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
PAVIA

Molecular genetic diagnosis of autism (Array-CGH)
Università degli Studi di Pavia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

POLAND

Warszawa
WARSZAWA

Cytogenetic diagnosis of constitutional chromosomal abnormalities (microdeletion/ microduplication syndromes by FISH, MLPA, array CGH: MLPA kits P245, P297, P036)
Instytut Matki i Dziecka
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : MLPA based techniques, Array based techniques, FISH, Karyotyping

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of of micro rearrangement related to autism (by array)
CHU Paris Centre - Maternité Port Royal
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of susceptibility to autism (NLGN4X gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of Asperger syndrome (NLGN3, NLGN4X candidate genes)
Bioarray
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Diagnosis of autism (SHANK3 gene, 15q11q13 and 16p11)
CHU de Limoges - Hôpital de la mère et de l'enfant
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques, Array based techniques

SPAIN

Madrid
MADRID

Diagnosis of autism (KaryoNIM® Autism 180k)
NIMGenetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

GREECE

ATTIKI
ATHENS

Molecular diagnosis of predisposition to autism (NLGN3 and NLGN4X genes)
"Aghia Sophia" Children's Hospital
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

ITALY

UMBRIA
PERUGIA

Molecular cytogenetic diagnosis of susceptibility to autism (NLGN4X, NLGN3, MECP2 genes)
Azienda Ospedaliera Universitaria di Perugia Santa Maria della Misericordia
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Cytogenetics

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of spectrum autism disorder and susceptibility factors (SHANK3 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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) : Sanger sequencing

FRANCE

CENTRE-VAL DE LOIRE
ORLEANS

Diagnosis of autism and intellectual deficiency (CGH arrays)
CHR d'Orléans - Hôpital de la Source
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

CROATIA

CROATIA
ZAGREB

Molecular diagnosis of Autism
Children's University Hospital Zagreb
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

OCCITANIE
NÎMES

Diagnosis of autism and autism spectrum disorder (Panel)
CHU de Nîmes - Hôpital Caremeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques