There is no disease so rare
that it does not deserve attention

Caption : Accreditation = ;

• • 
  • Molecular diagnosis of familial hypercalcemia (CASR, GA11 and AP2S1 genes)
  • CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
  • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques
  • More information
  • FRANCE
  • ILE-DE-FRANCE
  • PARIS
• • 
  • Molecular analysis of CASR gene
  • CHU de Limoges - Hôpital Dupuytren
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
  • Technical procedure(s) : Sanger sequencing
  • More information
  • FRANCE
  • LIMOUSIN
  • LIMOGES
• • 
  • Molecular diagnosis of hypocalciuric hypercalcemia, familial (CASR gene)
  • Erasme Hospital - ULB
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • BELGIUM
  • ARRONDISSEMENT BRUSSELS-CAPITAL
  • BRUSSELS
• • 
  • Molecular diagnosis of familial hypocalciuric hypercalcemia type 1 and 3 (AP2S1 and CASR genes)
  • Praxis Dr. Mato Nagel
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Sachsen
  • WEIßWASSER
• • 
  • Post-natal molecular diagnosis of CASR gene-associated diseases (CASR gene: by sequencing analysis of entire coding region)
  • The Churchill Hospital
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Sequence analysis: entire coding region
  • More information
  • UNITED KINGDOM
  • Oxfordshire
  • OXFORD
• • 
  • Molecular diagnosis of Familial Hypocalciuric Hypercalcaemia type 3 (AP2S1 codon p.Arg15: mutation screen by sequencing)
  • The Churchill Hospital
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • UNITED KINGDOM
  • Oxfordshire
  • OXFORD
• • 
  • Molecular diagnosis of familial hypocalciuric hypercalcemia type 3 (AP2S1 gene)
  • CHU de Limoges - Hôpital Dupuytren
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
  • Technical procedure(s) : Sanger sequencing
  • More information
  • FRANCE
  • LIMOUSIN
  • LIMOGES
• • 
  • Molecular diagnosis of familial hypocalciuric hypercalcemia type 1-3 (AP2S1, CASR, GNA11 genes)
  • CeGaT GmbH
  • Purpose(s) : Post-natal diagnosis
  • More information
  • GERMANY
  • Baden-Württemberg
  • TÜBINGEN
• • Molecular diagnosis of familial hypocalciuric hypercalcemia (AP2S1, CASR, GNA11 genes)
  • Centro de Diagnóstico Biomédico - CDB
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Cataluña
  • BARCELONA
• • Molecular diagnosis of familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia (CASR gene: full sequencing)
  • Haukeland University Hospital
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • NORWAY
  • Vestlandet
  • BERGEN
• • Molecular diagnosis of familial hypocalciuric hypercalcemia (CASR, AP2S1, GNA11 gene)
  • Hospital de la Santa Creu i Sant Pau
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • SPAIN
  • Cataluña
  • BARCELONA
• • Molecular diagnosis of familial hypocalciuric hypercalcemia, type 2 and 3(GNA11 and AP2S1 genes: sequencing of the entire coding region)
  • CGC Genetics / Centro de Genética Clínica
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Sequence analysis: entire coding region
  • More information
  • PORTUGAL
  • NORTE
  • PORTO
• • Molecular diagnosis of familial hypocalciuric hypercalcemia and autosomal recessive infantile hypercalcemia (CASR, GNA11, AP2S1, CYP24A1 genes; NGS)
  • CHU Paris Centre - Hôpital Cochin
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Technical procedure(s) : NGS sequencing (except WES)
  • More information
  • FRANCE
  • ILE-DE-FRANCE
  • PARIS
• • Diagnosis of familial hypocalciuric hypercalcemia by exploration of the renal function
  • CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Biochemical genetics
  • Objective(s) : Analyte / Enzyme assay
  • More information
  • FRANCE
  • ILE-DE-FRANCE
  • PARIS
• • Molecular diagnosis of familial hypocalciuric hypercalcemia (CASR gene)
  • Amplexa Genetics A/S
  • 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
  • Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing
  • More information
  • DENMARK
  • Fyn
  • ODENSE
• • Molecular diagnosis of hypocalcemia (GCMB, PTH, GATA3, TBCE, AIRE, GNAS, CASR, GNA11, TRPM6, CYP27A1, VDR, FAM111A and TBX1 genes)
  • University of Eastern Finland
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • FINLAND
  • Finland
  • KUOPIO
• • Molecular diagnosis of hypercalcemia (CASR, AP2S1, GNA11, CDC73 (HRPT2), MEN1, RET, CDKN1B, and SLC34A3 genes)
  • University of Eastern Finland
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • More information
  • FINLAND
  • Finland
  • KUOPIO
• • Mutation screening in Familial Hypocalciuric Hypercalcaemia
  • 2nd Department of Internal Medicine, Semmelweis University
  • Purpose(s) : Post-natal diagnosis
  • Specialty(ies) : Molecular genetics
  • Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
  • Technical procedure(s) : Sanger sequencing
  • More information
  • HUNGARY
  • Közép-Magyarország
  • BUDAPEST