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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Molecular diagnosis of FMR1-associated diseases (FMR1 gene: search for expansion triplets)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

FRANCE

PAYS DE LA LOIRE
NANTES

Accreditation
Molecular diagnosis of fragile X syndrome and primary ovarian failure related to FMR1 gene
CHU de Nantes - Institut de Biologie
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Uniparental disomy study
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation
Molecular diagnosis of fragile X syndrome (FMR1 gene, triplet and methylation)
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis FMR1 gene - related disorders
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation
Molecular diagnosis of FMR1-associated diseases (FMR1 gene)
Eurofins Biomnis
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

GERMANY

Baden-Württemberg
ULM

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

BELGIUM

VLAAMS BRABANT
LEUVEN

Accreditation
Molecular diagnosis of FXTAS syndrome (FMR1 gene)
University Hospitals Leuven - Gasthuisberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation
Molecular diagnosis of Fragile X-associated Tremor Ataxia Syndrome (FMR1 gene)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Fragile X-associated Tremor/Ataxia Syndrome (FMR1 gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Accreditation
Molecular diagnosis of X-fragile syndrome (FMR1 gene)
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : PCR based techniques

ITALY

TOSCANA
FIRENZE

Accreditation
Antenatal and postnatal molecular diagnosis of fragile X-associated tremor/ataxia syndrome (targeted mutation analysis of FMR1 gene)
Azienda Ospedaliero Universitaria Careggi
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques, MLPA based techniques

SWITZERLAND

Suisse Romande
SION

Accreditation
Molecular diagnosis of FMR1 gene - related disorders (Fragile X syndrome, premature ovarian failure and tremor/ataxia syndrome: triplet repeat expansion analysis by PCR)
Institut Central des Hôpitaux (ICH)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Molecular diagnosis of fragile X syndromes FRAXA, FRAXE and fragile X-associated tremor/ataxia syndrome (methylation sensitive MLPA FMR1 and FMR2 genes; repeat length of FMR1; entire coding region of FMR1; exome sequencing)
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Unexplained Movement Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

BRETAGNE
RENNES

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of FMR1 Related Disorders (by triple repeat sizing of FMR1 gene)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of fragile X - associated tremor/ataxia syndrome (FMR1 gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (gène FMR1)
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of fragile X syndrome (AFF2, FMR1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of FMR1-associated diseases (FMR1 gene)
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Manitoba
WINNIPEG

Accreditation
Molecular Diagnosis of FMR1-Related Disorders (FMR1 triplet repeat analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Ontario
OTTAWA

Accreditation
Molecular Diagnosis of FMR1-Related Disorders (FMR1 triplet repeat analysis)
Children's Hospital of Eastern Ontario
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Molecular diagnosis of Fragile X Tremor/Ataxia Syndrome (FMR1 gene)
VUmc - VU medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Nordrhein-Westfalen
AACHEN

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Universitätsklinikum Aachen
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : 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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
Diagnosis of intellectual disability (Panel)
CHU de Marseille - Hôpital de la Timone
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)

SWITZERLAND

Suisse Alémanique
BERN

Accreditation
Diagnosis of FMR1-associated diseases (FMR1 gene)
Inselspital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene: fragment analysis)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Ontario
KINGSTON

Accreditation
Molecular Diagnosis of FMR1 Related Disorders (FMR1 triplet repeat analysis)
Kingston General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Terre-Neuve-et-Labrador
ST. JOHN'S

Accreditation
Molecular Diagnosis of FMR1 Related Disorders (FMR1 triplet repeat analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

SALZBURG
SALZBURG

Molecular diagnosis of fra(X) syndrome (FMR1 gene)
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

ITALY

LIGURIA
GENOVA

Molecular diagnosis of fragile X syndrome associated to tremor/ataxia (FMR1 gene)
Ospedali Galliera
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PIEMONTE
TORINO

Molecular diagnosis of fragile X syndrome associated with Tremors and Ataxia / FXTAS (FMR1 gene)
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

DENMARK

Syddanmark
VEJLE

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene: triplet repeat expansion analysis by PCR and Southern blot)
Sygehus Lillebaelt Vejle Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of fragile X syndrome (FMR1 gene)
Genetiks - Genetic diagnosis and research center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Molecular diagnosis of fragile X syndrome associated with tremor/ataxia (FXTAS) (FMR1 gene)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Fragile X-associated tremor/ataxia syndrome (FMR1 gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
DNA Data
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome FXTAS (FMR1 gene)
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Molecular diagnosis of syndrome tremblement-ataxie lié à une prémutation de l'X fragile (FMR1 gene)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

CANADA

Alberta
CALGARY

Molecular Diagnosis of FMR1 Related Disorders (FMR1 triplet repeat analysis)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

GERMANY

Niedersachsen
OSNABRÜCK

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

CANADA

Colombie-Britannique
VANCOUVER

Molecular Diagnosis of FMR1-Related Disorders (FMR1 triplet repeat analysis)
BC Women's Hospital and Health Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Alberta
EDMONTON

Molecular Diagnosis of FMR1 Related Disorders (FMR1 triplet repeat analysis)
University of Alberta
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Fragile X-associated tremor/ataxia syndrome (FMR1 gene: methylation analysis by msTP-PCR amd targeted mutation analysis by convencional PCR)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Methylation analysis
Technique(s) : PCR based techniques

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Molecular of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

HUNGARY

Közép-Magyarország
BUDAPEST

Molecular analysis of FMR1 gene - FXTAS
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

NOUVELLE AQUITAINE
POITIERS

Diagnosis of intellectual disability (Panel ID275)
CHU de Poitiers
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)

HUNGARY

Észak-Magyarország
DEBRECEN

Molecular diagnosis of FMR1-associated diseases (Fragile X syndrome, premature ovarian failure and tremor/ataxia syndrome)
University of Debrecen
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

BRETAGNE
BREST

Diagnosis of intellectual disability (Panel)
CHRU de Brest - Hôpital Morvan
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)

GREECE

ATTIKI
ATHENS

Prenatal and postnatal molecular diagnosis of fragile X syndrome (FMR1 gene: analysis of 5'UTR
Mitera General, Maternity and Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of FMR1-related syndromes (FMR1, Mutation analysis, Carrier screening)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GREECE

ATTIKI
ATHENS

Molecular diagnosis of fragile X syndrome (FMR1 gene)
Bioiatriki S.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSZAWA

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Instytut Psychiatrii i Neurologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Hertie-Institut für klinische Hirnforschung (HIH)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BADALONA

Diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

PORTUGAL

CENTRO
BRAGA

Molecular diagnosis of X-fragile syndrome (FMR1 and FMR2 genes): PCR and Southern blot analysis for CGG repeat quantification; sequencing analysis of the entire conding region.
Universidade do Minho
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ITALY

UMBRIA
PERUGIA

Molecular diagnosis of fragile X-associated tremor/ataxia syndrome (FMR1 gene)
Azienda Ospedaliera Universitaria di Perugia Santa Maria della Misericordia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics