x

Search for a diagnostic test

* (*) mandatory field

119 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

FRANCE

ILE-DE-FRANCE
POISSY

Accreditation
Diagnosis of gonadal dysgenesis (SRY gene)
Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Accreditation
Diagnosis of sexual ambiguity relatted to SRY gene
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

GERMANY

Niedersachsen
HANNOVER

Accreditation
Diagnosis of mixed gonadal dysgenesis
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

BELGIUM

LIEGE
LIEGE

Accreditation
Diagnosis of sexual ambiguity related to SRY gene
CHU de Liège - UniLab Lg
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Search of duplications and/or deletions by array-CGH
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : Array based techniques, FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Aneuploïdy screening (chromosomes 13, 18, 21, X and Y): interphasic FISH or QF-PCR testing.
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : PCR based techniques, FISH

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Accreditation
Aneuploïd screen (chromosomes 13, 18, 21, X and Y) by interphase FISH or QFPCR
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Technique(s) : PCR based techniques, FISH

GERMANY

Baden-Württemberg
ULM

Accreditation
Diagnosis of XY gonadal dysgenesis (SRY, DSS-region, DMRT1 gene)
Universitätsklinikum Ulm
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Bayern
MÜNCHEN

Accreditation
FISH on interphase nuclei to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Diagnosis of sexual ambiguity related to SRY gene
Institut de Pathologie et de Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Molecular diagnosis of Gonadal dysgenesis (SRY gene)
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Schleswig-Holstein
LÜBECK

Accreditation
FISH on interphase nuclei to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

NETHERLANDS

Limburg
MAASTRICHT

Accreditation
Cytogenetic analysis and aneuploidy screen (chromosomes 13, 18, 21, X, Y)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

GERMANY

Thüringen
JENA

Accreditation
Rapid FISH on interphase nuclei and STR prenatal rapid test to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Institut für Humangenetik am Universitätsklinikum Jena
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation
Aneuploïd screen (chromosomes 13, 18, 21, X and Y): Interphase FISH and/or QF-PCR analysis
Genetica AG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Baden-Württemberg
HEIDELBERG

Accreditation
Diagnosis of uniparental disomy of chromosomes 7, 14 , 15 and X
Institut für Humangenetik am Universitätsklinikum Heidelberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Uniparental disomy study
Technique(s) : Microsatellite analysis

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation
Diagnosis of XY gonadal dysgenesis (DHH, DMRT1, NR5A1, SRY genes)
Institut für Humangenetik des Universitätsklinikums Münster
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular diagnosis of Gonadal Dysgenesis (sequence analysis of SRY plus diagnostic queries)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Accreditation
Diagnosis of aneuploidy (interphase FISH of chromosomes 13, 18, 21, X and Y)
CHRU de Besançon - Hôpital Jean Minjoz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

FRANCE

BRETAGNE
BREST

Accreditation
Diagnosis of SRY-related developmental anomalies (FISH analysis)
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Determination of genetic sex in cases of sexual ambiguity (SRY gene)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of sex development disorders and peripheral infertilities (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of gonadal dysgenesis (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Nonsyndromal Disorders of Sex Development (gene panel; DSD00v16.1)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular diagnosis of aneuploidy (chromosomes 13, 18, 21, X and Y; by QF-PCR)
St Mary's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Molecular cytogenetic diagnosis of XX male syndrome and XY Female type Gonadal Dysgenesis (SRY gene by QF-PCR / FISH analysis / conventional karyotype)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, FISH, Karyotyping

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Noninvasive diagnosis of foetal sex in the maternal blood : Search for sequences SRY
CHU Paris Centre - Hôpital Cochin, Site Cochin
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Non invasive prenatal testing of trisomy 13,18,21 and sex chromosomes (NIPT)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Antenatal diagnosis, Risk assessment
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES)

BELGIUM

LIEGE
LIEGE

Accreditation
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 and 21 and sex chromosomes
Centre Hospitalier Régional de la Citadelle
Purpose(s) : Antenatal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of genetic infertility (panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

NOUVELLE AQUITAINE
POITIERS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Poitiers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

NORMANDIE
ROUEN

Accreditation
Diagnosis of developmental abnormalities and intellectual disability (Whole exome)
CHU de Rouen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Diagnosis of sex development disorders (gene panel)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

BELGIUM

OOST-VLAANDEREN
GENT

Accreditation
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 and 21 and sex chromosomes
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Purpose(s) : Antenatal diagnosis, Risk assessment
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES)

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 and 21 and sex chromosomes
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Risk assessment
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : NGS sequencing (except WES)

FRANCE

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

Accreditation
Diagnosis of rare genetic developmental defect during embryogenesis (Whole exome)
Centre de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

GRAND-EST
REIMS

Accreditation
Diagnosis of developmental abnormalities (Whole exome)
CHU de Reims - Hôpital Maison Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of developmental abnormalities without intellectual disability (Whole exome)
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Accreditation
Molecular diagnosis of Turner syndrome (Y-STS multiplex)
Belfast City Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Molecular diagnosis of Gonadal Dysgenesis (by mutation analysis of the SRY - sex determining region Y- gene)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of SRY-Related Gonadal Disorder (SRY)
North York General Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

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

Accreditation
Molecular Cytogenetic Diagnosis of SRY-Related Gonadal Disorder (mFISH SRY probe analysis)
Health Sciences Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Ontario
TORONTO

Accreditation
Molecular Cytogenetic Diagnosis of SRY-Related Gonadal Disorder (FISH SRY)
The Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

CANADA

Ontario
OTTAWA

Accreditation
Molecular Cytogenetic Diagnosis of SRY-Related Gonadal Disorder (FISH)
Children's Hospital of Eastern Ontario
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

GERMANY

Schleswig-Holstein
KIEL

Accreditation
Diagnosis of SRY gene associated gonadal dysgenesis (SRY gene)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of disorder sex development (Panel)
CHU Paris - Hôpital Robert Debré
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of gonadal dysgenesis (SRY gene)
CHU de Montpellier - IURC
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
Technique(s) : Sanger sequencing, PCR based techniques

ITALY

LAZIO
ROMA

Diagnosis of gonadal dysgenesis mixed
Istituto CSS-Mendel
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : FISH, Karyotyping

ITALY

SICILIA
CATANIA

Cytogenetic diagnosis of gonadal dysgenesis mixed
CPSS - Centro Polidiagnostico Servizi Sanitari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

LOMBARDIA
SAN FERMO DELLA BATTAGLIA

Cytogenetic diagnosis of gonadal dysgenesis mixed
ASST Lariana - Ospedale S.Anna di Como
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

SPAIN

Aragón
ZARAGOZA

Diagnosis of gonadal dysgenesis (SRY gene)
Hospital Universitario Miguel Servet
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : PCR based techniques

GREECE

ATTIKI
ATHENS

Aneuploidy screen by PCR (chromosomes 13, 18, 21, X, Y)
Diagnostic Genetic Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ITALY

LOMBARDIA
BUSTO ARSIZIO

Cytogenetic diagnosis of mixed gonadal dysgenesis
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

PIEMONTE
TORINO

Molecular diagnosis of mixed gonadal dysgenesis
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

TOSCANA
FIRENZE

Cytogenetic diagnosis of mixed gonadal dysgenesis, Swyer syndrome
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

LAZIO
ROMA

Molecular diagnosis of aneuploidy (chromosome 13, 18, 21, X and Y) determined by QF-PCR
Istituto CSS-Mendel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

ITALY

SICILIA
CATANIA

Molecular diagnosis of aneuploidy (chromosome 13, 18, 21, X and Y) determined by QF-PCR
CPSS - Centro Polidiagnostico Servizi Sanitari
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

SPAIN

País Vasco
SAN SEBASTIÁN

Diagnosis of aneuploidy (QF-PCR technique, chromosomes 13, 18, 21, X and Y)
Hospital Universitario Donostia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

POLAND

Poznan
POZNAN

Molecular diagnosis of gonadal dysgenesis (SRY gene)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LOMBARDIA
BUSTO ARSIZIO

Molecular diagnosis of SRY gene associated diseases
Toma Advanced Biomedical Assays S.p.A.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

POLAND

Warszawa
WARSAW

Molecular diagnosis of sex determination disorders (SRY gene: analysis of coding region)
MEDGEN
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of 46,XX and 46,XY gonadal dysgenesis (panel)
IMEGEN - Delegación Valencia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

ITALY

LOMBARDIA
MILANO

Diagnosis of aneuploidies of 13, 18, 21, X, Y chromosomes
ASST Santi Paolo e Carlo, Ospedale San Paolo - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size
Technique(s) : PCR based techniques, FISH, Karyotyping

SPAIN

Madrid
MADRID

Diagnosis of Turner syndrome
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : Array based techniques, Karyotyping

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Molecular cytogenetic diagnosis of Turner syndrome
Center for Cardiovascular Genetics and Gene Diagnostics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

LAZIO
ROMA

Molecular diagnosis of gonadal dysgenesis (SRY gene)
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GREECE

GREECE
THESSALONIKI

Molecular and cytogenetic diagnosis of sex differenciation anomalies and infertility (USP9Y and SRY genes)
Eurogenetica SA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

POLAND

Warszawa
WARSAW

Molecular diagnosis of disorders of sex development (SRY gene)
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Cataluña
BARCELONA

Diagnosis of Turner syndrome (PCR-based STR analysis)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Other

SPAIN

Comunidad Valenciana
ALICANTE

Diagnosis of aneuploidy (chromosomes 13, 18, 21, X and Y / detection of chromosome alterations large in size, PCR based techniques)
Hospital Clínica Vistahermosa
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Other

ITALY

SICILIA
AVOLA

Diagnosis of aneuploidy - chromosomes 13, 18, 21, X
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ITALY

SICILIA
AVOLA

Diagnosis of Turner syndrome
Laboratori Campisi s.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

SPAIN

País Vasco
BARAKALDO

Diagnosis of disorders of sex development (panel)
Instituto de Investigación sanitaria Biocruces Bizkaia
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) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

ITALY

VENETO
LIMENA

Molecular diagnosis of aneuploidy (analysis of 13, 18, 21, X and Y chromosomes determined by QF-PCR)
RDI - RETE DIAGNOSTICA ITALIANA
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques

HUNGARY

Közép-Magyarország
DEBRECEN

Cytogenetic diagnosis of aneuploidies and structural rearrangements
University of Debrecen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

LOMBARDIA
SAN FERMO DELLA BATTAGLIA

Cytogenetic diagnosis of Turner syndrome
ASST Lariana - Ospedale S.Anna di Como
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

AUSTRIA

SALZBURG
SALZBURG

Search for genomic Y chromosome sequences in Turner syndrome (SRY)
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Other

ITALY

LOMBARDIA
PAVIA

Diagnosis of sexual development disorders [panel of genes]
Microgenomics S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of disorders of sex differentiation (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of intellectual disability (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic 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)

FRANCE

OCCITANIE
MONTPELLIER

Diagnosis of disorder of sex development (Panel)
CHU de Montpellier - IURC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

SPAIN

Comunidad Valenciana
VALENCIA

Diagnosis of genetic disorder of sex development (panel)
Hospital Universitario y Politécnico La Fe
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Baleares
PALMA DE MALLORCA

Diagnosis of 46,XY gonadal dysgenesis (SRY gene)
Hospital Universitario Son Espases
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
BARCELONA

Diagnosis of disorder of sex development (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Analysis of the foetal DNA in the maternal blood : Search for sequences SRY (foetal sex) and RHD
CHU de Marseille - Hôpital Nord
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PUGLIA
MOLFETTA

Cytogenetic diagnosis of mixed gonadal dysgenesis (mosaic, XX, XY)
Centro Associato "Pansini"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

SICILIA
CATANIA

Molecular diagnosis of gonadal dysgenesis mixed (mosaic, XX, XY)
Azienda Ospedaliero Universitaria "Policlinico Vittorio Emanuele"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

ABRUZZO
L'AQUILA

Molecular cytogenetic diagnosis of gonadal dysgenesis mixed
Università degli Studi dell'Aquila - Coppito
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

SICILIA
PALERMO

Cytogenetics diagnosis of gonadal dysgenesis mixed
Azienda Ospedaliera Ospedali Riuniti "Villa Sofia-Cervello" - Presidio Cervello
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Diagnosis of mixed gonadal dysgenesis
Institut für Humangenetik der Martin-Luther-Universität Halle Wittenberg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Hessen
BAD NAUHEIM

Rapid FISH on interphase nuclei to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Zweigniederlassung der SYNLAB MVZ Kassel GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Hessen
GIEßEN

FISH on interphase nuclei to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Humangenetische Praxis Dr. Schmidt & Mautner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

SPAIN

Canarias
LA CUESTA

Diagnosis of SRY related disorders
Hospital Universitario de Canarias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ROMANIA

BUCURESTI
BUCURESTI

Aneuploïd screen (chromosomes 13, 18, 21, X and Y) by interphase FISH
Spitalul Judetean Ilfov
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Technique(s) : FISH

ITALY

PUGLIA
LECCE

Molecular cytogenetic diagnosis of mixed gonadal dysgenesis
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

SWITZERLAND

Suisse Alémanique
BASEL

Aneuploïd screen (chromosomes 13, 18, 21, X and Y) by interphase FISH
Universitäts-Kinderspital beider Basel - UKBB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GREECE

ATTIKI
ATHENS

Aneuploidy screen by PCR and MLPA (chromosomes 13, 18, 21, X, Y)
Mitera General, Maternity and Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : PCR based techniques, MLPA based techniques

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

Molecular cytogenetic diagnosis of mixed gonadal dysgenesis
IRCCS Burlo Garofolo - Istituto per l'Infanzia
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

MARCHE
FANO

Molecular diagnosis of aneuploidy (chromosomes 13, 18, 21, X and Y)
Associazione Cante di Montevecchio
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

EMILIA ROMAGNA
REGGIO EMILIA

Cytogenetic and molecular diagnosis of mixed gonadal dysgenesis
AUSL IRCCS Arcispedale Santa Maria Nuova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BULGARIA

 South-West region
SOFIA

Molecular diagnosis of aneuploidy (chromosomes 13, 18, 21, X and Y)
University hospital of Obstetrics and Gynecology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Search for genomic Y chromosome sequences in Turner syndrome patients
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

FRIULI VENEZIA GIULIA
UDINE

Molecular cytogenetic diagnosis of mixed gonadal dysgenesis
Casa di Cura "Città di Udine"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

BULGARIA

 South Central region
PLOVDIV

Molecular cytogenetic diagnosis of Turner syndrome
University Hospital Plovdiv - UMHAT Sv. Georgi - EAD
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Rapid FISH on interphase nuclei to detect specific trisomies (numeric aberration of 13/18/21/X/Y)
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

GERMANY

Rheinland-Pfalz
KAISERSLAUTERN

Diagnosis of Turner syndrome
Med-Biolog-Labor
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of 46,XX testicular disorder of sex development (SRY)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

PIEMONTE
VERCELLI

Cytogenetic diagnosis of Turner syndrome
Ospedale S. Andrea - ASL VC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

ITALY

CAMPANIA
NAPOLI

Molecular cytogenetics diagnosis of aneuploidy (chromosome 13, 18, 21, X and Y; FISH analysis)
Azienda Ospedaliera Universitaria "Federico II"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

ITALY

UMBRIA
PERUGIA

Cytogenetic diagnosis of Turner syndrome
Genetics 2000 S.r.l.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : Karyotyping

FRANCE

PAYS DE LA LOIRE
LE MANS

FISH analyses of microdeletions / microduplications
Centre Hospitalier Le Mans
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

PUGLIA
LECCE

Molecular diagnosis of aneuploidy - chromosomes 13, 18, 21, X and Y by FISH and QF-PCR
Presidio Ospedaliero "Vito Fazzi" - ASL LE
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH

PORTUGAL

CENTRO
OEIRAS

Prenatal and postnatal molecular diagnosis of male sterility due to chromosome Y deletion (Y microdeletions in AZFa, AZFb, AZFc regions and SRY analysis by MLPA)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

PORTUGAL

CENTRO
OEIRAS

Prenatal and postnatal molecular genetic diagnosis of Turner Syndrome (MLPA)
Laboratório de Análises Clínicas Dr. Joaquim Chaves
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

CANADA

Québec
QUÉBEC

Molecular cytogenetic chimerism analysis
CHUQ - Hôpital Saint-Francois d'Assise
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics

ITALY

PUGLIA
GROTTAGLIE

Antenatal and postnatal molecular cytogenetic diagnosis of aneuploidy in chromosomes 13, 18, 21, X and Y (determined by FISH)
Presidio Ospedaliero Centrale - Ospedale "San Marco"
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of chromosome alterations large in size
Technique(s) : FISH, Karyotyping

CANADA

Alberta
CALGARY

Molecular Cytogenetic Diagnosis of SRY-Related Gonadal Disorder (SRY)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : FISH

ITALY

VENETO
PADOVA

Diagnosis of aneuploidy (analysis of 13, 18, 21, X and Y chromosomes) determined by CGH-array
Policlinico Universitario di Padova
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis, Detection of chromosome alterations large in size, Detection of microdeletions/microduplications
Technique(s) : PCR based techniques, Array based techniques, Karyotyping