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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
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

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of disorder of protein N-glycosylation (Panel)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons, Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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GERMANY

Hamburg
HAMBURG

Accreditation Diagnosis of fructose intolerance
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

STEIERMARK
GRAZ

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MARTINSRIED

Accreditation Diagnosis of fructose intolerance (ALDOB gene: A149P, A174D, N334K, Y203X)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ESTONIA

Tartu
TARTU

Accreditation Diagnosis of fructosemia: quantitative monosaccharide analysis (GC/MC)
Centre of Clinical Genetics - Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
Zweigniederlassung der SYNLAB MVZ Augsburg GmbH
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

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GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation Diagnosis of fructose intolerance
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

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GERMANY

Baden-Württemberg
MANNHEIM

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
Zentrum für Humangenetik Mannheim
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Sachsen
LEIPZIG

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
MVZ Labor Dr. Reising-Ackermann und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
Diagenom GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
Universitair Ziekenhuis Brussel
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Biochemical diagnosis of Galactose and Fructose Metabolism Disorders (Analyte: Polyols and Sugars)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Hessen
FRANKFURT AM MAIN

Accreditation Diagnosis of fructose intolerance (ALDOB gene: sequencing / MLPA)
bio.logis Zentrum für Humangenetik
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

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GERMANY

Niedersachsen
HANNOVER

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
amedes genetics im MVZ wagnerstibbe
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

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of 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)

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AUSTRIA

TIROL
INNSBRUCK

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB 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

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GERMANY

Baden-Württemberg
FREIBURG

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
Synlab MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Romande
LAUSANNE

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
Synlab Lausanne
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Sachsen
WEIßWASSER

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
Praxis Dr. Mato Nagel
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Heterozygote screening by NGS Inherited Disease Panel (Kingsmore panel)
Pränatal-Medizin München MVZ GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene: sequencing, MLPA)
Pränatal-Medizin München MVZ GmbH
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

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Diagnosis of inherited disorders of cholestasis (Panel)
CHU 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, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation Diagnosis of metabolic liver diseases (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing, PCR based techniques

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AUSTRIA

OBERÖSTERREICH
LINZ

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
Ordensklinikum Linz GmbH Barmherzige Schwestern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of metabolic 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)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of hereditary fructose intolerance (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)

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation Diagnosis of rare liver diseases (NGS screening panel, 118 genes)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation Diagnosis of fructose related diseases (ALDOB, FBP1 genes)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : MLPA based techniques

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NETHERLANDS

Gelderland
NIJMEGEN

Accreditation Diagnosis of Hereditary Fructose Intolerance (ALDOB gene)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SWITZERLAND

Suisse Alémanique
ZÜRICH

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
Institut für Medizinische & Molekulare Diagnostik
Purpose(s) : Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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FRANCE

ILE-DE-FRANCE
PARIS

Accreditation Diagnosis of hereditary fructose intolerance (ALDOB gene)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Sachsen
DRESDEN

Accreditation Diagnosis of fructose intolerance (ALDOB gene)
MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH
Purpose(s) : Post-natal diagnosis, Pharmacogenetics
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation Diagnosis of fructose intolerance (ALDOB gene: sequencing / MLPA)
Institut für Laboratoriumsmedizin und Humangenetik
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

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UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation Molecular diagnosis of Hereditary Fructose Intolerance (ALDOB gene c.448GC -p.Ala150Pro)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Nordrhein-Westfalen
MÖNCHENGLADBACH

Accreditation Diagnosis of fructose intolerance
MVZ Dr. Stein + Kollegen Mönchengladbach
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation Molecular diagnosis of Hereditary Fructose Intolerance (Aldolase B: sequencing and dosage analysis)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Hereditary Fructose Intolerance (ALDOB gene)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Baden-Württemberg
STUTTGART

Accreditation Diagnosis of fructose intolerance (ALDOB gene: A149P, A174D, N334K, delta4E4)
Labor Prof. Dr. G. Enders MVZ
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

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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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BELGIUM

LIEGE
LIEGE

Accreditation Biochemical diagnosis of Carbohydrate metabolism disorder (reducing sugars: TLC and enzymatic, blood and urine)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation Molecular diagnosis of Hereditary Fructose Intolerance (ALDOB gene)
Amsterdam UMC, locatie VUmc
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, Deletion / Duplication analysis
Technique(s) : Sanger sequencing, MLPA based techniques

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ITALY

CAMPANIA
NAPOLI

Diagnosis of fructose intolerance (ALDOB gene)
Biotecnologie Avanzate Srl
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) : Sanger sequencing

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GERMANY

Nordrhein-Westfalen
KÖLN

Diagnosis of fructose intolerance (ALDOB gene)
Zotz|Klimas Standort Köln
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Niedersachsen
OSNABRÜCK

Diagnosis of fructose intolerance (ALDOB gene)
Praxis Dres. Gencik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

TOSCANA
FIRENZE

Biochemical and molecular diagnosis of fructose intolerance (ALDO-B gene)
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

BASILICATA
MATERA

Diagnosis of fructose intolerance
Presidio Ospedaliero "Madonna delle Grazie" - Azienda Sanitaria di Matera (ASM)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
BAD STEBEN

Diagnosis of fructose intolerance
Institut für angewandte Humangenetik und Onkogenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Hamburg
HAMBURG

Diagnosis of fructose intolerance (ALDOB gene: A149P, A174D, N334K)
Gemeinschaftspraxis für Humangenetik GbR
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Andalucía
MÁLAGA

Diagnosis of hereditary fructose intolerance (ALDOB gene)
IMEGEN - Delegación Málaga
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

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POLAND

Poznan
POZNAN

Molecular diagnosis of fructose intolerance (ALDOB gene: mutations A150P and A175D)
Centrum Genetyki Medycznej GENESIS
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Madrid
CANTOBLANCO

Diagnosis of hereditary fructose intolerance (ALDOB gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region, Deletion / Duplication analysis, Analyte / Enzyme assay
Technique(s) : NGS sequencing (except WES), Sanger sequencing, MLPA based techniques

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SPAIN

Madrid
MADRID

Diagnosis of fructose intolerance (ALDOB gene)
Hospital Universitario Fundación Jiménez Díaz
Purpose(s) : Antenatal diagnosis, Pre-implantation diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of fructose intolerance (ALDOB gene: hotspot)
Praxis für Humangenetik und Prävention
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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GERMANY

Sachsen
DRESDEN

Diagnosis of fructose intolerance (ALDOB gene: sequencing / MLPA)
Gemeinschaftspraxis für Humangenetik
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

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SPAIN

La Rioja
LOGROÑO

Diagnosis of hereditary fructose intolerance (ALDOB gene / mutations A149P, A174D, N334K)
Fundación Rioja Salud - Centro de Investigación Biomédica de La Rioja
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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SPAIN

Madrid
MADRID

Diagnosis of hereditary fructose intolerance (ALDOB gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of hereditary fructose intolerance (ALDOB gene - mutation screening of p.A149P, p.A174D, p.N334K)
LabGenetics - 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

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SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of hereditary fructose intolerance (ALDOB gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Baden-Württemberg
STUTTGART

Diagnosis of fructose intolerance (ALDOB gene)
Klinikum Stuttgart - Standort Olgahospital
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

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AUSTRIA

STEIERMARK
KAINBACH BEI GRAZ

Molecular diagnosis of hereditary fructose intolerance (ALDOB gene)
Labor für Molekularbiologische Analytik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary fructose intolerance (ALDOB gene)
Medizinische Universität Wien
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Molecular diagnosis of hereditary liver diseases [panel of genes]
Research&Innovation S.r.l. (R&I Genetics)
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), Whole Exome Sequencing (WES)

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of recessive diseases (panel, qCarrier Plus)
qGenomics
Purpose(s) : Antenatal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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GERMANY

Rheinland-Pfalz
MAINZ

Diagnosis of fructose intolerance (ALDOB gene)
Universitätsmedizin Mainz
Purpose(s) : Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

VENETO
PADOVA

Diagnosis of rare gastroenterologic diseases [panel of genes]
Azienda Ospedaliera di Padova
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)

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Diagnosis of rare inborn errors of metabolism (panel)
Hospital Clínico Universitario de Santiago
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

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ITALY

VENETO
PADOVA

Diagnosis of hereditary fructose intolerance (ALDOB gene)
Research&Innovation S.r.l. (R&I Genetics)
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) : Sanger sequencing

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GERMANY

Bayern
MÜNCHEN

Diagnosis of fructose intolerance
Labor für molekulare Genetik und metabolische Erkrankungen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LAZIO
ROMA

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

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PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of hereditary fructose intolerance (ALDOB gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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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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GERMANY

Hessen
GIEßEN

Diagnosis of fructose intolerance
Humangenetische Praxis Dr. Schmidt & Mautner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of fructose intolerance
Ospedale dei Bambini ''Vittore Buzzi"
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SWEDEN

Region Stockholm
STOCKHOLM

Molecular diagnosis of fructose intolerance (ALDOB gene)
Karolinska Universitetssjukhuset - Solna
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of fructose intolerance (ALDOB gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Fructose Intolerance (Analyte: Fructose-1-phosphate aldolase)
University College London Hospitals, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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POLAND

Warszawa
WARSAW

Molecular diagnosis of fructose intolerance (ALDOB gene)
Warszawski Uniwersytet Medyczny
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Hereditary Fructose Intolerance (Analyte: Fructose-1-phosphate Aldolase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

VENETO
PADOVA

Biochemical diagnosis of fructosemia
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

LOMBARDIA
BRESCIA

Molecular diagnosis of fructose intolerance (ALDOB gene)
Biodiversity
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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CZECH REPUBLIC

Moravia-Silesia
OSTRAVA

Molecular diagnosis of fructose intolerance (ALDOB gene)
CGB laboratory Ltd.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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FRANCE

GRAND-EST
REIMS

Diagnosis of intolerance to fructose (fructose 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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CZECH REPUBLIC

Moravia-Silesia
OSTRAVA-PORUBA

Molecular diagnosis of fructose intolerance (ALDOB gene)
Laboratory of Forensic Genetics, Laborator forenzni genetiky, spol. s r.o.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LOMBARDIA
MILANO

Molecular diagnosis of fructose intolerance (ALDOB gene)
Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of hereditary fructose intolerance
Hospital Sant Joan de Déu Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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PORTUGAL

NORTE
PORTO

Molecular diagnosis of hereditary fructose intolerance (ALDOB gene: targeted mutation anlysis (A149P, A174D, N335K) and sequencing analysis of the enttire coding region)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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SLOVAKIA

Bratislavsky kraj
BRATISLAVA

Molecular diagnosis of hereditary fructose intolerance (ALDOB gene: mutations del4E4, A149P, A174D; N344K ; sequencing)
University Hospital Bratislava - Stare mesto
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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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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CANADA

Alberta
CALGARY

Molecular Diagnosis of Hereditary Fructose Intolerance (ALDOB)
Alberta Children's Hospital
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of hepatic diseases (Panel)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis
Technique(s) : NGS sequencing (except WES)

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AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of Hereditary fructose intolerance (ALDOB gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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AUSTRIA

WIEN
WIEN

Molecular diagnosis of hereditary fructose intolerance (ALDOB gene)
Praxis für Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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SPAIN

Cataluña
BARCELONA

Diagnosis of rare inborn errors of metabolism (panel)
Hospital Universitari Vall d'Hebron
Purpose(s) : Pre-implantation diagnosis, 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

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