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FRANCE

ILE-DE-FRANCE
PARIS

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

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FRANCE

LIMOUSIN
LIMOGES

Accreditation 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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Molecular diagnosis of hypocalciuric hypercalcemia, familial (CASR gene)
Erasme Hospital - ULB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
WEIßWASSER

Accreditation Molecular diagnosis of familial hypocalciuric hypercalcemia type 1 and 3 (AP2S1 and CASR genes)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation 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

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UNITED KINGDOM

Oxfordshire
OXFORD

Accreditation 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

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FRANCE

LIMOUSIN
LIMOGES

Accreditation 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, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of familial hypocalciuric hypercalcemia type 1-3 (AP2S1, CASR, GNA11 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of tubulopathies (Panel)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of bone diseases (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation Diagnosis of endocrine diseases (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
BARCELONA

Molecular diagnosis of familial hypocalciuric hypercalcemia (AP2S1, CASR, GNA11 genes)
Centro de Diagnóstico Biomédico - CDB
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NORWAY

Vestlandet
BERGEN

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

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SPAIN

Cataluña
BARCELONA

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

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PORTUGAL

NORTE
PORTO

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

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FRANCE

ILE-DE-FRANCE
PARIS

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)

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HUNGARY

Közép-Magyarország
BUDAPEST

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

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FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of calcium metabolism anomalies (Panel)
CHU Paris Centre - Hôpital Cochin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

BASSE-NORMANDIE
CAEN

Diagnosis of phosphocalcic metabolism disorders (Panel)
CHU de Caen - Hôpital Clémenceau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

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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

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DENMARK

Fyn
ODENSE

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, Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FINLAND

Finland
KUOPIO

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

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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

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of familial hypocalciuric hypercalcemia type 3 (AP2S1 gene)
Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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