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

FRANCE
OCCITANIE
MONTPELLIER
Diagnosis of bone diseases (Panel)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

GERMANY
Baden-Württemberg
TÜBINGEN
Molecular analysis of somatic mutation in tumour tissue for therapeutic decisions (Somatic Tumor Panel, 710 genes)
CeGaT GmbH
Purpose(s)
: Post-natal diagnosis, Somatic genetics
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of Duane retraction syndrome with congenital deafness (MAFB gene)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

BELGIUM
ANTWERPEN
ANTWERPEN-EDEGEM
Diagnosis of skeletal dysplasia (gene panel)
Centrum Medische Genetica - UZA
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)

SPAIN
Asturias
OVIEDO
Diagnosis of genetic deafness (panel)
IMOMA - Instituto de Medicina Oncológica y Molecular de Asturias
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)

GERMANY
Nordrhein-Westfalen
KÖLN
Diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of bone dysplasia (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

ITALY
LOMBARDIA
PAVIA
Diagnosis of disproportionate/syndromic short stature and skeletal dysplasia [panel of genes]
Microgenomics S.r.l.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

ITALY
LOMBARDIA
PAVIA
Diagnosis of osteogenesis imperfecta and osteopetrosis [panel of genes]
Microgenomics S.r.l.
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of congenital deafness (panel)
Hospital Sant Joan de Déu Barcelona
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES)

SPAIN
Galicia
A CORUÑA
Diagnosis of dyslipidemia and early atherosclerosis (panel - 103 genes)
Health In Code
Purpose(s)
: Post-natal diagnosis, Risk assessment
Specialty(ies)
: Molecular genetics
Objective(s)
: Mutation scanning/screening and sequence analysis of selected exons
Technique(s)
: NGS sequencing (except WES)

SPAIN
País Vasco
SAN SEBASTIÁN
Diagnosis of primary osteolysis (panel)
DNA Data
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)

GERMANY
Baden-Württemberg
ULM