x

Search for a diagnostic test

* (*) mandatory field

40 Result(s)

Filter by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

Reset
Sort by

Caption : Accreditation =Accreditation
;

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Molecular diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SOX10 genes)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation
Search of genomic DNA duplications and/or deletions by array-CGH
Centre Hospitalier Universitaire Vaudois CHUV
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SWITZERLAND

Suisse Romande
GENÈVE

Accreditation
Molecular diagnosis of Waardenburg syndrome, types 1 and 3 (PAX3 gene sequencing)
Hôpitaux Universitaires de Genève HUG
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Accreditation
Molecular diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SOX10 genes)
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
Search of genomic DNA duplications and/or deletions by CGH arrays / chromosomal microarrays
Universität Zürich
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Cytogenetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Waardenburg Syndrome type 1 and 3 (PAX3 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

BELGIUM

HAINAUT
GOSSELIES

Accreditation
Molecular diagnosis of Waardenburg syndrome, types 1 and 3 (PAX3 gene by MLPA and seq)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis in case of Multiple Congenital Anomalies (SNP-array)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
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)

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of Waardenburg syndrome (EDNRB, MITF, PAX3, SOX10 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

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Syndromic Hearing Loss - Waardenburg, Treacher Collins, Alport, Norrie Syndrome NGS Panel and Del/Dup Analysis (9 Genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, 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

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of Waardenburg syndrome (panel)
Asper Biogene
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of Waardenburg syndrome (Panel)
CHU Paris - Hôpital Necker-Enfants Malades
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)

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of Waardenburg syndrome (EDNRB, EDN3, MITF, PAX3, SNAI2, SOX10 genes)
Pränatalmedizin München
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, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of Waardenburg syndrome (PAX3, MITF, SOX10 genes)
Reference Laboratory Genetics
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

GERMANY

Bayern
BAD STEBEN

Accreditation
Molecular diagnosis of Waardenburg syndrome (PAX3 gene)
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

ITALY

VENETO
COSTOZZA DI LONGARE

Molecular diagnosis of Waardenburg syndrome (PAX3 gene)
B.I.R.D. Foundation
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

VENETO
PADOVA

Molecular diagnosis of Waardenburg syndrome type 1,2 and 3 (PAX3 and MITF genes)
Azienda Ospedaliera di Padova
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hessen
FRANKFURT AM MAIN

Molecular diagnosis of Waardenburg syndrome (EDNRB, MITF, PAX3, SOX10 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

SPAIN

Andalucía
MÁLAGA

Diagnosis of Waardenburg syndrome type 1 (PAX3 gene)
Genetaq
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, MLPA based techniques

SPAIN

Andalucía
ARMILLA

Molecular diagnosis of Waardenburg syndrome type 1 (deletions of PAX3 gene by MLPA analysis and entire coding sequence)
Lorgen G.P.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : MLPA based techniques

SPAIN

País Vasco
DERIO

Molecular diagnosis of Waardenburg syndrome type 1 (aCGH)
Genetadi Biotech S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of Waardenburg syndrome (MITF, PAX3, SOX10 genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Sachsen
DRESDEN

Molecular diagnosis of Waardenburg syndrome (EDNRB, MITF, PAX3, SNAI2, SOX10 genes: sequencing / MLPA; EDN3 gene: sequencing)
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

FRANCE

BRETAGNE
BREST

Molecular diagnosis of dysmorphological syndromes by CGH array
CHRU de Brest - Hôpital Morvan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Cytogenetics
Objective(s) : Detection of microdeletions/microduplications
Technique(s) : Array based techniques

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Waardenburg syndrome type 1: deletion/duplication analysis by MLPA
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

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Waardenburg syndrome (EDN3, EDNRB, MITF, SNAI2, SOX10, and PAX3 genes)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

País Vasco
SAN SEBASTIÁN

Molecular diagnosis of Waardenburg syndrome type 1 (PAX3 gene / array-CGH)
Policlínica Gipuzkoa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : Array based techniques

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular diagnosis of Waardenburg syndrome types 1 and 3 (PAX3 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

SPAIN

Asturias
OVIEDO

Diagnosis of genetic deafness (GJB2, GJB3, GJB6, WFS1, POU3F4, OTOF, COCH, SLC26A4, PAX3, MT-RNR1, MT-TL1, MT-TS1 genes)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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, MLPA based techniques

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of deafness (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
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

HAUTS-DE-FRANCE
LILLE

Diagnosis of Waardenburg syndrome (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of Waardenburg syndrome type 1 (PAX3 gene), type 2 (MITF gene) and type 2E (SOX10 gene)
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

TURKEY

TURKEY
ESKISEHIR

Molecular diagnosis of Waardenburg syndrome by MLPA
Eskisehir Osmangazi University Medical Faculty
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technique(s) : MLPA based techniques

TURKEY

TURKEY
ISTANBUL

Molecular diagnosis of waardenburg syndrome (whole sequence of PAX3 gene)
Istanbul Universitesi, Tip Fakültesi
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Waardenburg syndrome (PAX3, Linkage analysis, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Waardenburg (PAX3, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
MADRID

Diagnosis of Waardenburg syndrome type 1 (PAX3 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), MLPA based techniques

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of Waardenburg syndrome (PAX3, MITF, SNAI2, SOX10 genes)
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

HUNGARY

Dél-Alföld
SZEGED

Waardenburg syndrome
University of Szeged Deparment of Medical Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing