Search for a diagnostic test
27 Result(s)
Caption
: Accreditation
= ;

FRANCE
NOUVELLE AQUITAINE
LIMOGES
Molecular analysis of CASR gene
CHU de Limoges - Hôpital Dupuytren
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
Technique(s)
: Sanger sequencing

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

GERMANY
Sachsen
WEIßWASSER
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
Technique(s)
: Sanger sequencing

UNITED KINGDOM
Oxfordshire
OXFORD
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

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

SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of familial hypocalciuric hypercalcemia (panel)
Reference Laboratory Genetics
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES)

FRANCE
NOUVELLE AQUITAINE
LIMOGES
Molecular diagnosis of familial hypocalciuric hypercalcemia type 3 (AP2S1 gene)
CHU de Limoges - Hôpital Dupuytren
Purpose(s)
: 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
Technique(s)
: Sanger sequencing

FRANCE
ILE-DE-FRANCE
PARIS
Diagnosis of tubulopathies (Panel)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Purpose(s)
: 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of bone diseases (Panel)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s)
: Antenatal diagnosis, Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE
HAUTS-DE-FRANCE
LILLE
Diagnosis of endocrine diseases (Panel)
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s)
: 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, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Diagnosis of familial hypocalciuric hypercalcemia (Panel)
CHU de Marseille - Hôpital de la Conception
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Diagnosis of phosphocalcic metabolism (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, Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

GERMANY
Baden-Württemberg
TÜBINGEN
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
Technique(s)
: Sanger sequencing

SPAIN
Cataluña
BARCELONA
Diagnosis of familial hypocalciuric hypercalcemia (AP2S1, CASR, GNA11 genes)
Centro de Diagnóstico Biomédico - CDB
Purpose(s)
: Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

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

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
Technique(s)
: Sanger sequencing

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
Technique(s)
: NGS sequencing (except WES)

FRANCE
NORMANDIE
CAEN
Diagnosis of dyscalcemia, nephrocalcinosis, nephrolithiasis (Panel)
CHU de Caen - Hôpital Clémenceau
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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

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

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

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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

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

GERMANY
Nordrhein-Westfalen
DÜSSELDORF
Array-CGH in case of unexplained developmental delay
Praenatal-Medizin und Genetik, Düsseldorf
Purpose(s)
: Antenatal diagnosis
Specialty(ies)
: Cytogenetics
Objective(s)
: Detection of microdeletions/microduplications
Technique(s)
: Array based techniques

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

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
Technique(s)
: Sanger sequencing

ITALY
PUGLIA
SAN GIOVANNI ROTONDO