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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation 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)

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation 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)

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GERMANY

Bayern
MÜNCHEN

Accreditation 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)

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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

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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

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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

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GERMANY

Schleswig-Holstein
LÜBECK

Diagnosis of pseudohypoparathyroidism (GNAS gene: sequencing, methylation status)
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Methylation analysis, Analyte / Enzyme assay, Protein expression
Technique(s) : Sanger sequencing, MLPA based techniques, Immunohistochemistry

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