x

Search for a diagnostic test

* (*) mandatory field

37 Result(s)

Result(s)sorted by

Speciality(ies)/objective(s)

Technique(s)

Purpose(s)

Quality management

Country(ies)

RESET
Sort by

Caption : Accreditation =Accreditation
;

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
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
Technical procedure(s) : Sanger sequencing

ESTONIA

Tartu
TARTU

Accreditation
Molecular diagnosis of Usher syndrome (NGS panel: ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP, GIPC3, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, USH1G; APEX panel: CDH23, MYO7A, PCDH15, USH1C, USH1G, USH2A, GPR98, CLRN1, DFNB31)
Asper Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), PCR based techniques

ESTONIA

Tartu
TARTU

Accreditation
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 Biotech Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : PCR based techniques

ITALY

TOSCANA
FIRENZE

Accreditation
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

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
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
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
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
Technical procedure(s) : Sanger sequencing

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
Technical procedure(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
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
Technical procedure(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
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
Technical procedure(s) : Sanger sequencing

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of Usher syndrome type 1 (MYO7A gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Usher Syndrome NGS Panel (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
Technical procedure(s) : NGS sequencing (except WES), Array based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
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
Technical procedure(s) : Sanger sequencing, MLPA based techniques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Accreditation
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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Molecular diagnosis of Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGRV1, DFNB31, PDZD7, USH3A and CIB2 genes; NGS)
IURC - Institut Universitaire de Recherche Clinique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

ESTONIA

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

SPAIN

Andalucía
SEVILLA

Molecular diagnosis of Usher syndrome (MYO7A, USH1C, PCDH15, CDH23, USH1G, USH2A, GPR98 and CLRN1 genes)
Hospital Universitario Virgen del Rocío
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

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

SPAIN

Madrid
MADRID

Molecular diagnosis of Usher syndrome (CDH23, MYO7A, PCDH15, USH1C, USH1G, USH2A, GPR98, CLRN1, DFNB31 genes)
Fundación Jiménez Díaz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Usher syndrome (MYO7A, USH2A, GPR98, and DFNB31 genes)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Usher syndrome type 1 (MYO7A gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

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

ITALY

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

SPAIN

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

ITALY

LAZIO
ROMA

Molecular diagnosis of Usher syndrome (ABHD12, CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, USH1C, USH1G, USH2A genes by sequencing)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Molecular diagnosis of Usher syndrome (MYO7A and USH2A genes; NGS)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

ITALY

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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

FRANCE

LANGUEDOC-ROUSSILLON
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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES)

GERMANY

Baden-Württemberg
TÜBINGEN

Molecular diagnosis of Usher syndrome (NGS Screening Panel - genes: CDH23, CLRN1, CLRN3, DFNB31, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A, PDZD7)
Forschungsinstitut für Augenheilkunde
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

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

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

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

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

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

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

SPAIN

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
Technical procedure(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Preimplantation genetic diagnosis of Usher syndrome type 1 (MYO7A gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics