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

FRANCE
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of nephropathies (Whole exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

FRANCE
AUVERGNE-RHONE-ALPES
LYON
Diagnosis of genetic tubular nephropathy (Whole Exome)
Eurofins Biomnis
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

GERMANY
Bayern
MÜNCHEN
Diagnosis of rare genetic renal disease (NGS panel: 615 genes)
Pränatal-Medizin München MVZ GmbH
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

SPAIN
País Vasco
BARAKALDO
Diagnosis of pseudohypoparathyroidism (GNAS gene)
Instituto de Investigación sanitaria Biocruces Bizkaia
Purpose(s)
: Antenatal diagnosis, 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, Uniparental disomy study, Methylation analysis, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques, Microsatellite analysis

ITALY
LOMBARDIA
CREMONA
Diagnosis of pseudohypoparathyroidism (GNAS gene)
ASST Cremona
Purpose(s)
: Post-natal diagnosis, Newborn screening
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

SPAIN
País Vasco
VITORIA-GASTEIZ
Diagnosis of Albright hereditary osteodystrophy (GNAS gene)
Hospital Universitario Araba. Sede Txagorritxu
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

GERMANY
Schleswig-Holstein
LÜBECK