Search for a diagnostic test
4 Result(s)
Caption
: Accreditation
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UNITED KINGDOM
Greater London
LONDON
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

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

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