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

HAUTS-DE-FRANCE
LILLE
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

NORMANDIE
CAEN
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

AUVERGNE-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

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE
Biochemical diagnosis of hyperoxaluria
Laboratoire Cerba
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

Greater London
LONDON
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
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

Bayern
MARTINSRIED
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
Technique(s)
: Sanger sequencing

Sachsen
WEIßWASSER
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
Technique(s)
: Sanger sequencing

Mecklenburg-Vorpommern
ROSTOCK
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
Technique(s)
: Sanger sequencing

Hamburg
HAMBURG
Molecular diagnosis of hyperoxaluria (AGXT gene)
Labor Lademannbogen
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

HAINAUT
GOSSELIES
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
Objective(s)
: Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

Greater London
LONDON
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
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Noord-Holland
AMSTERDAM
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

Greater London
LONDON
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
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Rheinland-Pfalz
INGELHEIM AM RHEIN
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
Technique(s)
: Sanger sequencing

Gelderland
NIJMEGEN
Molecular diagnosis in case of Unexplained Metabolic Disorders (whole exome sequencing)
Radboudumc - Radboud universitair medisch centrum
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Whole Exome Sequencing (WES)

Mecklenburg-Vorpommern
ROSTOCK
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
Technique(s)
: Sanger sequencing

Baden-Württemberg
KARLSRUHE
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
Technique(s)
: Sanger sequencing

Greater London
LONDON
Diagnosis of primary hyperoxaluria (Analytes: urine oxalate, glycolate, glycerate, 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, Protein expression
Technique(s)
: Western Blot

Baden-Württemberg
FREIBURG
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
Technique(s)
: Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of primary hyperoxaluria (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)

PROVENCE-ALPES-COTE D'AZUR
NICE
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Whole Exome Sequencing (WES)

Bayern
MÜNCHEN
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
Technique(s)
: Sanger sequencing, MLPA based techniques

TIROL
INNSBRUCK
Molecular diagnosis of primary hyperoxaluria type 1 (AGXT gene)
Medizinische Universität Innsbruck
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

Cataluña
L'HOSPITALET DE LLOBREGAT
Diagnosis of peroxisomal and lysosomal diseases (gene 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)

South Yorkshire
SHEFFIELD
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

South Yorkshire
SHEFFIELD
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

South Yorkshire
SHEFFIELD
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

Tyne & Wear
NEWCASTLE UPON TYNE
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

Tyne & Wear
NEWCASTLE UPON TYNE
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

Noord-Holland
AMSTERDAM
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

Utrecht
UTRECHT
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

ANTWERPEN
ANTWERPEN
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

Baden-Württemberg
TÜBINGEN
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
Technique(s)
: Sanger sequencing

AUVERGNE-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
Technique(s)
: Sanger sequencing, MLPA based techniques

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

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

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, Deletion / Duplication analysis
Technique(s)
: Sanger sequencing, MLPA based techniques

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

WIEN
WIEN
Molecular diagnosis of primary hyperoxaluria (AGXT gene)
Praxis für Humangenetik
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

AUVERGNE-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
Technique(s)
: Sanger sequencing

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

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
Technique(s)
: MLPA based techniques

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

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

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

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
Technique(s)
: NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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

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
Technique(s)
: NGS sequencing (except WES)

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
Technique(s)
: NGS sequencing (except WES)

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
Technique(s)
: NGS sequencing (except WES)

WIEN
WIEN
Molecular diagnosis of primary hyperoxaluria (GRHPR gene)
Medizinische Universität Wien
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

Nordrhein-Westfalen
KÖLN
Molecular diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)
Institut für Humangenetik am Universitätsklinikum Köln
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Molecular genetics
Objective(s)
: Sequence analysis: entire coding region
Technique(s)
: NGS sequencing (except WES), Sanger sequencing

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

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

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

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

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, Sequence analysis: entire coding region
Technique(s)
: Sanger sequencing

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

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

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

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

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

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
Technique(s)
: Sanger sequencing

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

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
Technique(s)
: Sanger sequencing

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

Cataluña
ESPLUGUES DE LLOBREGAT
Diagnosis of primary hyperoxaluria (GC/MS analysis)
Hospital Universitari Sant Joan de Déu
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

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

GRAND-EST
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

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

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
Technique(s)
: Sanger sequencing, MLPA based techniques

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

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

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

Ontario
TORONTO
Biochemical Diagnosis of Primary Hyperoxaluria (oxalic acid-plasma, hyperoxaluria panel-urine)
The Hospital for Sick Children
Purpose(s)
: Post-natal diagnosis
Specialty(ies)
: Biochemical genetics
Objective(s)
: Analyte / Enzyme assay

STEIERMARK
GRAZ