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FRANCE

NORD-PAS-DE-CALAIS
LILLE

Accreditation Biochemical diagnosis of hyperoxaluria
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

BASSE-NORMANDIE
CAEN

Accreditation Biochemical diagnosis of hyperoxaluria (organic acids/ GC-MS)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

Accreditation Biochemical diagnosis of hyperoxaluria
Laboratoire Cerba
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Primary Hyperoxaluria type 2 (GRHPR gene: whole gene sequence/prenatal diagnosis/mutation analysis)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Primary Hyperoxaluria type 1 (AGXT gene)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Bayern
MARTINSRIED

Accreditation Molecular diagnosis of hyperoxaluria (AGXT gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
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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GERMANY

Sachsen
WEIßWASSER

Accreditation Molecular diagnosis of hyperoxaluria (AGXT, GRHPR, HOGA1 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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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Molecular diagnosis of hyperoxaluria (AGXT and GRHPR genes)
Centogene AG
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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GERMANY

Hamburg
HAMBURG

Accreditation Molecular diagnosis of hyperoxaluria (AGXT gene)
Labor Lademannbogen
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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BELGIUM

HAINAUT
GOSSELIES

Accreditation Molecular diagnosis of Hyperoxaluria, Primary, Type I (AGXT gene)
Institut de Pathologie et de Génétique - Gosselies
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Alanine-glyoxylate aminotransferase deficiency (Hyperoxaluria type 1; AGXT gene: whole gene sequence/prenatal diagnosis/mutation analysis)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Hyperoxaluria (Analyte: Oxalic and Glycolic Acid)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Accreditation Molecular diagnosis of Primary hyperoxaluria type 3 (HOGA1 gene: whole gene sequence)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Molecular diagnosis of hyperoxaluria (AGXT, GRHPR, HOGA1 genes)
Bioscientia Institut für Medizinische Diagnostik 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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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Molecular diagnosis in case of Unexplained Metabolic Disorders (exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Molecular diagnosis of peroxisomal disorders (PEX1-3, PEX5-7, PEX10-14, PEX16, PEX19, PEX26 genes)
Centogene AG
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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GERMANY

Baden-Württemberg
KARLSRUHE

Accreditation Molecular diagnosis of hyperoxaluria (AGXT gene)
Labor PD Dr. Volkmann und Kollegen
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

Greater London
LONDON

Accreditation Biochemical diagnosis of primary hyperoxaluria (Analytes: urine oxalate, glycolate, hydroxyoxoglutarate, plasma oxalate and measurement of alanine by glyoxylate aminotransferase and glyoxylate reductase activities in a liver biopsy)
Biochemistry services - UCL Hospitals Foundation NHS Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Molecular diagnosis of hyperoxaluria (AGXT and GRHPR genes)
Praxis für Humangenetik Freiburg
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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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore)
Pränatalmedizin München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of primary hyperoxaluria type 1 (AGXT gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of primary hyperoxaluria type 2 (GRHPR gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Molecular diagnosis of primary hyperoxaluria type 3 (HOGA1 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Molecular diagnosis of hyperoxaluria (AGXT, HOGA1 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

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
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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GERMANY

Bayern
MÜNCHEN

Accreditation Molecular diagnosis of hyperoxaluria (AGXT, GRHPR, HOGA1 genes)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Biochemical diagnosis of Peroxisomal biogenesis disorders & Peroxisomal single enzyme defects (Analyte: Fatty acids very-long-chain)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Biochemical diagnosis of Adult Refsum disease / Peroxisomal disorders (Analyte: Phytanic acid)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation Biochemical diagnosis of Peroxisomal disorders (Analytes: Pristanic acid, plasmalogens, pipecolic acid & Very Long Chain Fatty acids)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation Biochemical diagnosis of Peroxisomal disorders (Analyte: Pristanic acid)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Primary Hyperoxaluria type 2 (Glyoxylate Reductase activity)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Utrecht
UTRECHT

Accreditation Biochemical diagnosis of Carbohydrate Metabolism Disorders (Analyte: Sugars and Sugaralcohols in urine)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation Biochemical diagnosis of Carbohydrate metabolism disorder (reducing sugars: TLC, blood and urine)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

RHONE-ALPES
BRON

Biochemical and molecular diagnosis of hyperoxaluria type I (AGXT gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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FRANCE

ILE-DE-FRANCE
PARIS

Biochemical diagnosis of hyperoxaluria type 1 and type 2
CHU Paris - Hôpital Necker-Enfants Malades
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

RHONE-ALPES
GRENOBLE

Biochemical diagnosis of hyperoxaluria
CHU de Grenoble site Nord - Institut de biologie et de pathologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ESTONIA

Tartu
TARTU

Diagnosis of peroxisomal metabolism disorders : very long chain fatty acid analysis (GC/MS)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Madrid
CANTOBLANCO

Biochemical diagnosis of primary hyperoxaluria type 1
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
KÖLN

Molecular diagnosis of hyperoxaluria (AGXT, GRHPR, HOGA1 genes)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

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FRANCE

RHONE-ALPES
BRON

Biochemical and molecular diagnosis of D-glycerate dehydrogenase deficiency (GRHPR gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Sequence analysis: entire coding region, Analyte / Enzyme assay
Technical procedure(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of primary hyperoxaluria type 1 (AGXT gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of primary hyperoxaluria type 1 (AGXT gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

RHONE-ALPES
BRON

Molecular diagnosis of primary hyperoxaluria type 3 (HOGA1 gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of primary hyperoxaluria, type III (HOGA1 gene: Sequencing of the entire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of Primary hyperoxaluria type 1 (AGXT gene: Sequencing of the entire coding region and deletion/duplication analysis by MLPA)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : MLPA based techniques

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SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of primary hyperoxaluria type 2 (GRHPR gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
MÁLAGA

Molecular diagnosis of primary hyperoxaluria type 3 (HOGA1 gene)
Genetaq
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of primary hyperoxaluria type 1 (AGXT gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of primary hyperoxaluria type 3 (HOGA1 gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Hyperoxaluria type I & II (Analyte: quantiative GC-IDMS oxalate, glycerate)
Universitair Ziekenhuis Brussel - UZBrussel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of primary hyperoxaluria type 1 (AGXT gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of primary hyperoxaluria type 2 (GRHPR gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of primary hyperoxaluria type 3 (HOGA1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

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FRANCE

BRETAGNE
BREST

Biochemical diagnosis of hyperoxaluria
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

Biochemical diagnosis of hyperoxaluria
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LAZIO
ROMA

Biochemical diagnosis of hyperoxaluria
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Biochemical diagnosis of primary hyperoxaluria, types I and II
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Canarias
SANTA CRUZ DE TENERIFE

Diagnosis of hyperoxaluria (AGXT, GRHPR, HOGA1 genes)
Hospital Universitario de Canarias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

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ITALY

PIEMONTE
ORBASSANO

Molecular diagnosis of hyperoxaluria, type 1 2 and 3 (AGXT, GRHPR and HOGA1 genes)
Azienda Ospedaliero-Universitaria San Luigi Gonzaga
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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LITHUANIA

DZUKIJA
VILNIUS

Biochemical diagnosis of carbohydrate metabolism by thin layer chromatography of carbohydrates
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

PIEMONTE
TORINO

Biochemical diagnosis of hyperoxaluria
Presidio Ospedaliero Umberto I di Torino
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of hyperoxaluria, type 1 and 2
Ospedale dei Bambini ''Vittore Buzzi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Niedersachsen
GÖTTINGEN

Molecular diagnosis of peroxisomal disorders (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 genes)
Universitätsmedizin Göttingen
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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ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Primary Hyperoxaluria (AGXT, Mutation analysis)
Hadassah Ein Kerem - Hebrew University Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
HEIDELBERG

Molecular diagnosis of hyperoxaluria (AGXT gene)
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
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

Greater London
LONDON

Biochemical diagnosis of Peroxisomal disorders (Analyte: Very Long Chain Fatty Acids)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Biochemical diagnosis of hyperoxaluria.
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Niedersachsen
HANNOVER

Biochemical diagnosis hyperoxaluria
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

CHAMPAGNE-ARDENNE
REIMS

Biochemical diagnosis of hyperoxaluria (chromatography of organic acids; oxalate assay)
CHU de Reims - American Memorial Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
BONN

Biochemical diagnosis of Hyperoxaluria (urine and plasma level of oxalate, glycolate and L- glyceric acid)
Universitäts-Kinderklinik Bonn
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hyperoxaluria (AGXT, GRHPR, HOGA1 genes)
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, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Biochemical diagnosis of carbohydrate metabolism disorder (reducing sugars: TLC in urine)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

LORRAINE
VANDOEUVRE-LÈS-NANCY

Biochemical diagnostic of primary hyperoxaluria (chromatography of organic acids)
CHU de Nancy - Hôpital de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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MOROCCO

Rabat
RABAT

Molecular diagnosis of hyperoxaluria (AGXT gene / p.Ile244Thr mutation)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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