Search for a diagnostic test
65 Result(s)
Caption
: Accreditation
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Nordrhein-Westfalen
BOCHUM
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Ruhr-Universität Bochum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Niedersachsen
GÖTTINGEN
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Humangenetik der Universität Göttingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
NEU-ULM
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Paxis und Labor Dr. med Karl Mehnert
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Schleswig-Holstein
KIEL
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 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

Sachsen
DRESDEN
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Mitteldeutscher Praxisverbund Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
MÖNCHENGLADBACH
Molecular diagnosis of sensorineural deafness (GJB2 gene)
Medizinische Versorgungszentrum Dr.Stein + Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of sensorineural deafness (GJB2, GJB3 and GJB6 genes)
Praxisgemeinschaft für Laboratoriumsmedizin und Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
Molecular diagnosis of sensorineural deafness (GJB2, GJB3, GJB6, MYH9, SLC26A4 genes)
Praxis für Humangenetik Freiburg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MARTINSRIED
Molecular diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, MYO7A, SIX1, SLC26A4 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
ULM
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsklinikum Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
MAINZ
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Universitätsmedizin Mainz
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
MANNHEIM
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes: sequencing, MLPA)
Zentrum für Humangenetik Mannheim
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

Hamburg
HAMBURG
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
WÜRZBURG
Molecular diagnosis of sensorineural deafness (GJB2, GJB3, GJB6, STRC genes)
Universität Würzburg - Biozentrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

NOUVELLE AQUITAINE
BORDEAUX
Molecular diagnosis of syndromic genetic deafness (GJB2, GJB3 and GJB6 genes)
CHU de Bordeaux-GH Pellegrin
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, Array based techniques

Nordrhein-Westfalen
DORTMUND
Molecular diagnosis of sensorineural deafness (GJA1, GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
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

OCCITANIE
TOULOUSE
Molecular diagnosis of KID syndrome (GJB2 gene)
CHU de Toulouse - Hôpital Purpan
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis of Keratitis-Ichthyosis-Deafness Syndrome (GJB2 gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis in case of Unexplained Deafness (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)

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of sensorineural deafness (GJB2, GJB6, MYH9, SLC26A4 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MÜNCHEN
Molecular diagnosis of autosomal dominant non syndromic sensorineural deafness (ACTG1, CCDC50, COCH, COL11A2, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH9, MYH14, MYO1A, MYO6, MYO7A, POU4F3, SIX1, SLC17A8, TECTA, TMC1, WFS1 genes)
Pränatalmedizin München
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of ectodermal dysplasia (gene panel)
Reference Laboratory Genetics
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), Sanger sequencing, MLPA based techniques

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of sensorineural deafness (GJB2 gene)
Diagenom GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of deafness (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)

Bayern
BAD STEBEN
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of autosomal dominant non-syndromic sensorineural deafness type DFNA (GJB2, GJB3, GJB6, MYH9, TECTA, WFS1 genes)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
SINGEN /HTWL.
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
ERLANGEN
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Humangenetisches Institut am Universitätsklinikum Erlangen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
REGENSBURG
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Dr. Staber & Kollegen GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Niedersachsen
OSNABRÜCK
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praxis Dres. Gencik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

WIEN
WIEN
Molecular diagnosis of Hystrix-like ichthyosis-deafness syndrome (GJB2 and GJB6 genes)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
MÜNSTER
Molecular diagnosis of sensorineural deafness (GJB2, GJB3 and GJB6 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

Hessen
FRANKFURT AM MAIN
Molecular diagnosis of sensorineural deafness (GJB1, GJB2, GJB3, GJB4 and GJB6 genes: sequencing, MLPA)
bio.logis Zentrum 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

Bayern
NÜRNBERG
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Medizinisches Versorgungszentrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bremen
BREMEN
Molecular diagnosis of sensorineural deafness (GJB2 gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
BONN
Molecular diagnosis of KID syndrome (GJB2 gene)
Universitätsklinikum Bonn
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
ULM
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
MVZ Humangenetik Ulm
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
DRESDEN
Molecular diagnosis of sensorineural deafness (COL11A2, GJB2,GJB6, TECTA genes)
Gemeinschaftspraxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
FREIBURG
Molecular diagnosis of KID syndrome (GJB2, GJB6 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

NORTE
PORTO
Molecular diagnosis of non-syndromic, autosomal recessive, dominant and X-linked hearing loss (GJB6, GJB2, GJB3, POU3F4, WFS1 genes: deletion/duplication analysis by MLPA (kit P163))
CGC Genetics / Centro de Genética Clínica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Deletion / Duplication analysis
Technique(s)
: MLPA based techniques

Baden-Württemberg
FREIBURG
Molecular diagnosis of sensorineural deafness (GJA1, GJB2 and GJB6 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

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of KID syndrome (GJB2 gene / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

Castilla - León
SALAMANCA
Diagnosis of KID syndrome (GJB2 gene)
Universidad de Salamanca. Facultad de Medicina
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

LAZIO
ROMA
Molecular diagnosis of KID syndrome (GJB2 gene)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Comunidad Valenciana
ELCHE
Diagnosis of ectodermal dysplasia syndrome (gene panel)
Bioarray
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Nordrhein-Westfalen
AACHEN
Molecular diagnosis of sensorineural deafness (GJB2 gene)
Praxis für Humangenetik Dr. Lemmens
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Sachsen
LEIPZIG
Molecular diagnosis of sensorineural deafness (GJB2 gene)
Institut für Humangenetik am Universitätsklinikum Leipzig
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
STUTTGART
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praxis für Humangenetik und Prävention
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

VENETO
PADOVA
Postnatal molecular diagnosis of KID/HID syndrome (sequence analysis of the entire coding region of GJB2 gene)
Azienda Ospedaliera di Padova
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SALZBURG
SALZBURG
Molecular diagnosis of autosomal, non-syndromic sensorineural deafness and KID syndrome (GJB2 gene)
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Molecular diagnosis of sensorineural deafness (NGS panel, 28 genes)
Pränatalzentrum Hamburg und Humangenetik
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

WIEN
WIEN
Molecular diagnosis of KID syndrome (GJB2 and GJB6 genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
MADRID
Diagnosis of syndromic genetic deafness (panel)
Fundación Jiménez Díaz
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Madrid
MADRID
Diagnosis of KID syndrome (GJB2 gene)
Hospital Universitario Ramón y Cajal
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), Array based techniques

Nordrhein-Westfalen
BONN
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Institut für Klinische Genetik Bonn
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Baden-Württemberg
HEIDELBERG
Electron microscopic diagnosis of ichthyosis
Universitäts-Hautklinik Heidelberg
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Pathology

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of KID syndrome (GJB2 gene) - on request
Cologne Center for Genomics (CCG) der Universität zu Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Limburg
MAASTRICHT
Molecular diagnosis of KID/HID Syndrome (GJB2 gene)
AZM - Academisch Ziekenhuis Maastricht
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
VALENCIA
Molecular diagnosis of KID syndrome (GJB2 gene)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Nordrhein-Westfalen
DÜSSELDORF
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
DÜSSELDORF
Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

Hamburg
HAMBURG
Molecular diagnosis of sensorineural deafness (GJB2 and GJB6 genes)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of KID syndrome (GJB2 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

Dél-Alföld
SZEGED