Orphanet: Simple search
x

Search for a diagnostic test

* (*) mandatory field

34 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation ;

GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation Diagnosis of premature ovarian failure (BMP15, FIGLA, FMR1, FOXL2, FSHR, GDF9, NOBOX, NR5A1, POF1B 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

More information
FRANCE

OCCITANIE
NÎMES

Accreditation Diagnosis of primary ovarian failure (BMP15 gene)
CHU de Nîmes - Hôpital Carémeau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, Array based techniques

More information
GERMANY

Nordrhein-Westfalen
MÜNSTER

Accreditation Diagnosis of XX gonadal dysgenesis (BMP15, FSHR, NR5A1 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

More information
GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of premature ovarian failure (NGS screening panel, 15 genes)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), PCR based techniques

More information
GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of XX gonadal dysgenesis (BMP15, FSHR genes)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of premature ovarian failure (BMP15, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, NOBOX, NR5A1, POF1B genes)
Pränatal-Medizin München MVZ GmbH
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

More information
GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation Diagnosis of premature ovarian failure (BMP15, FSHR genes)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation Diagnosis of XX gonadal dysgenesis (BMP15, FSHR genes)
MVZ Martinsried GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of premature ovarian failure (BMP15, FIGLA, FMR1, GDF9 genes)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of primary ovarian failure (Panel)
AP-HP.Centre - Université de Paris - Hôpital Cochin
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)

More information
FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICĘTRE

Accreditation Diagnosis of sex development disorders and peripheral infertilities (Panel)
AP-HP.Université Paris Saclay - Hôpital de Bicętre
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

More information
GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of premature ovarian failure (BMP15, FMR1 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of XX gonadal dysgenesis (BMP15, FSHR genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of genetic non-acquired premature ovarian failure (gene panel)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), MLPA based techniques

More information
FRANCE

GRAND-EST
STRASBOURG

Accreditation Diagnosis of rare genetic female infertility due to a point mutation (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)

More information
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)

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of premature ovarian failure/insufficiency (gene panel)
Universitair Ziekenhuis Brussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of intellectual disabilities (gene panel)
Cliniques universitaires Saint-Luc - UCLouvain
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

More information
ITALY

TRENTINO ALTO ADIGE
ROVERETO

Accreditation Diagnosis of ovarian dysgenesis [panel of genes]
MAGI'S LAB srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
SPAIN

Comunidad Valenciana
VALENCIA

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

More information
GERMANY

Baden-Württemberg
ULM

Diagnosis of premature ovarian failure (BMP15, DIAPH2, ESR1, FIGLA, FOXL2, FSHR, GDF9, INHA, LHCGR, NOBOX, NR5A1, SOHLH1, SOHLH2 genes)
MVZ Humangenetik Ulm GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
GERMANY

Sachsen
DRESDEN

Diagnosis of premature ovarian failure (BMP15, FOXL2, NR5A1 genes: sequencing, MLPA)
Gemeinschaftspraxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

More information
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

More information
GERMANY

Schleswig-Holstein
KIEL

Diagnosis of premature ovarian failure (BMP15, FMR1 genes)
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

More information
SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of 46,XX gonadal dysgenesis (BMP15, FSHR genes)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
ITALY

TOSCANA
PISA

Diagnosis of disorder of sex development [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
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

More information
GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of premature ovarian failure (BMP15, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, GDF9, NOBOX, NR5A1, POF1B genes)
Klinikum Stuttgart - Standort Olgahospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, PCR based techniques, MLPA based techniques

More information
AUSTRIA

WIEN
WIEN

Molecular diagnosis of premature ovarian insufficiency (BMP15, FOXL2, FSHR, NOBOX, NR5A1, and POF1B genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
FRANCE

BRETAGNE
RENNES

Diagnosis of premature ovarian failure (Panel)
CHU de Rennes - Hôpital Pontchaillou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

More information
ITALY

TOSCANA
PISA

Diagnosis of primary ovarian failure [panel of genes]
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

More information
GERMANY

Sachsen-Anhalt
MAGDEBURG

Diagnosis of gonadal dysgenesis, XX type (FSHR, BMP15 and GDF9 genes)
Universitätsklinikum Magdeburg A.ö.R
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information
ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of 46,XX gonadal dysgenesis (FSHR, BMP15, GDF9, FOXL2, LHR genes)
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), MLPA based techniques

More information
ITALY

LOMBARDIA
CUSANO MILANINO

Molecular diagnosis of Primary Ovarian failure (FSHR, BMP15, GDF9, FOXL2, FMR1, NOBOX, NR5A1 and STAG3 genes)
Istituto Auxologico Italiano
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

More information
GERMANY

Nordrhein-Westfalen
BONN

Diagnosis of premature ovarian failure (BMP15, FMR1 genes)
MVZ Institut für Klinische Genetik und Tumorgenetik Bonn GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

More information