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Caption : Accreditation =Accreditation ;

UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of pseudohypoparathyroidism Type 1 A (GNAS gene: Sequencing of the entire coding region of gene (s) / Testing for known mutations in family members)
Great Ormond Street Hospital for Children, York House
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region

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FRANCE

NORMANDIE
CAEN

Diagnosis of pseudohypoparathyroidism (GNAS and STX16 genes)
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Methylation analysis, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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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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SPAIN

País Vasco
VITORIA-GASTEIZ

Diagnosis of Albright hereditary osteodystrophy (GNAS gene)
HUA - 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

Biochemical and molecular 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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