Search for a diagnostic test
45 Result(s)
Caption
: Accreditation
= ;

Gelderland
NIJMEGEN
Molecular diagnosis of Usher Syndrome type 1B, 1D, 1F, 1G, 2A and 3A (MYO7A, CDH23, PCDH15, USH1G, USH2A and CLRN1 gene)
Radboudumc - Radboud universitair medisch centrum
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)
: Sanger sequencing

Tartu
TARTU
Molecular diagnosis of Usher 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)

Tartu
TARTU
Molecular screening of frequent diseases in Ashkenazi Jewish populations (APEX: ABCC8, AGL, ASPA, BCKDHB, BLM, CFTR, CLRN1, DLD, F11, FANCC, G6PC, GBA, GJB2, HEXA, IKBKAP, LDLR, MCOLN1, MEFV, NEB, PCDH15, SERPINA1, SMPD1, TMEM216 and TOR1A genes)
Asper Biogene
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis
Technique(s)
: PCR based techniques

TOSCANA
FIRENZE
Molecular diagnosis of Usher syndrome (USH2A, MYO7A, CLRN1, PCDH15, USH1G, DFNB31, PDZD7, CDH23, GPR98 genes)
Azienda Ospedaliero Universitaria Careggi
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Rheinland-Pfalz
INGELHEIM AM RHEIN
Molecular diagnosis of Usher syndrome (CDH23, CIB2, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A 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

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)

Mecklenburg-Vorpommern
ROSTOCK
Molecular diagnosis of Usher syndrome type ID, IJ and IIIA (CIB2, CLRN1, PCDH15 genes)
Centogene AG
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

ILE-DE-FRANCE
PARIS
Molecular diagnosis of Usher syndrome (MYO7A, PCDH15, USH1C, USH2A, CLRN1 and CDH23 genes)
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Bayern
MARTINSRIED
Molecular diagnosis of Usher syndrome (NGS screening panel, 12 genes)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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

Ontario
TORONTO
Molecular Diagnosis of Usher Syndrome NGS Panel (11 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

Bayern
MÜNCHEN
Molecular diagnosis of Usher syndrome (ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, USH2A, WHRN genes)
Pränatalmedizin München
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)
: Sanger sequencing, MLPA based techniques

OCCITANIE
MONTPELLIER
Diagnosis of Usher syndrome (Panel)
IURC - Institut Universitaire de Recherche Clinique
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)

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)

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Usher syndrome type 1 (MYO7A gene)
Reference Laboratory Genetics
Purpose(s)
: 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 Usher syndrome type 1 (CDH23 gene)
Reference Laboratory Genetics
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 Usher syndrome (CDH23, CLRN1, DFNB31, GPR98, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A genes: sequencing)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Andalucía
SEVILLA
Diagnosis of Usher syndrome (MYO7A, USH1C, PCDH15, CDH23, USH1G, USH2A, GPR98 and CLRN1 genes)
Hospital Universitario Virgen del Rocío
Purpose(s)
: Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques

Comunidad Valenciana
PATERNA
Molecular diagnosis of Usher syndrome (MYO7A, USH2A, CDH23, CLRN1, HARS genes)
IMEGEN - Instituto de Medicina Genómica
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

WIEN
WIEN
Molecular diagnosis of Usher syndrome (MYO7A, USH2A, ADGRV1, and WHRN genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

WIEN
WIEN
Molecular diagnosis of Usher syndrome (MYO7A gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Molecular diagnosis of Usher syndrome type 1 (MYO7A, USH1C, PCDH15 genes)
Sistemas Genómicos S.L.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

TRENTINO ALTO ADIGE
ROVERETO
Postnatal molecular diagnosis of Usher syndrome (CDH23, CIB2, CLRN1, WHRN, ADGRV1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, CEP250 genes)
MAGI'S LAB srl
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

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular diagnosis of Usher syndrome (MYO7A, CDH23, USH2A, GPR98, CLRN1 genes / entire coding sequence)
Centro Inmunológico de Alicante (CIALAB)
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region

LAZIO
ROMA
Molecular diagnosis of Usher syndrome (ABHD12, CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A genes)
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)

VENETO
PADOVA
Postnatal molecular diagnosis of Usher syndrome (sequence analysis of the entire coding region of MYO7A, CLRN1, HARS genes)
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

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)

HAUTS-DE-FRANCE
LILLE
Diagnosis of Usher 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)

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 Usher syndrome (CDH23, MYO7A, PCDH15, USH2A, USH1C, and USH1G genes)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Comunidad Valenciana
ELCHE
Diagnosis of Usher 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)

VENETO
PADOVA
Molecular diagnosis of genetic vitreous-retinal diseases [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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), Whole Exome Sequencing (WES)

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)

Baden-Württemberg
TÜBINGEN
Molecular diagnosis of Usher syndrome (NGS Screening Panel, 10 genes)
Department für Augenheilkunde Tübingen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

Tartu
TARTU
Molecular diagnosis of Usher syndrome (CDH23, MYO7A, PCDH15, Harmonin, SANS, Usherin and VLGR1 genes)
Tartu University Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Comunidad Valenciana
VALENCIA
Molecular diagnosis of Usher Syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, CLRN1 and DFNB31 genes)
Hospital Universitario y Politécnico La Fe
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
JERUSALEM
Molecular diagnosis of Usher syndrome (PCDH15, Mutation analysis, Carrier screening, PGD)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
REHOVOT
Molecular diagnosis of Usher type 1 (USH1, Mutation analysis, Carrier screening)
Kaplan Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
HAIFA
Molecular diagnosis of Usher type 1 (PCDH15, Mutation analysis, Carrier screening)
The Bnai Zion Medical Center, Technion-Rappaport Faculty of Medicine
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
RAMAT GAN
Molecular diagnosis of Usher syndrome type I (PCDH15, Mutation analysis, Carrier screening)
Sheba Medical Center
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

ISRAEL
PETAH TIKVA
Molecular diagnosis of Usher Syndrome (PCDH15, Mutation analysis, Carrier screening)
Rabin Medical Center - Beilinson Hospital
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics

Madrid
SAN SEBASTIÁN DE LOS REYES
Diagnosis of Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, GPR98, DFNB31, CLRN1, USH2A 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
Technique(s)
: Sanger sequencing

Comunidad Valenciana
PATERNA
Diagnosis of Usher syndrome type 1 (MYO7A gene)
Igenomix Spain
Purpose(s)
: Pre-implantation diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: PCR based techniques

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

Cataluña
BARCELONA
Diagnosis of retinal dystrophy (gene panel)
Universitat de Barcelona. Facultat de Biologia
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)

Fyn
ODENSE