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FRANCE

PAYS DE LA LOIRE
ANGERS

Accreditation
Biochemical diagnosis of tyrosinemia type 1
CHU d'Angers
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORMANDIE
CAEN

Accreditation
Biochemical diagnosis of tyrosinemia type 1 (amino acids/ HPLC)
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Biochemical diagnosis of tyrosinemia
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

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Biochemical diagnosis of tyrosinemia
CHU Paris - Hôpital Robert Debré
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
SAINT-OUEN-L'AUMÔNE

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Biochemical diagnosis of tyrosinemias types 1 and 2
CHU de Nice - Hôpital Pasteur
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FINLAND

Finland
TURKU

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene: mutations p.Trp262Ter, IVS12+5G>A)
Turku University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Biochemical diagnosis of tyrosinemia type 1 and 2
CHRU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Tyrosinemia type 1 (FAH gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Amino Acids and PUFA)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Biochemical diagnosis of tyrosinemia type 1, 2 and 3
CHU de Toulouse - Hôpital Purpan
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
TÜBINGEN

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene)
CeGaT GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene)
GHU Paris-Sud - Hôpital de Bicêtre
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES), Sanger sequencing

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Phenylalanine and Tyrosine Metabolism Disorders (Analyte: Phenylalanine, Tyrosine and Pterins)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Holland
AMSTERDAM

Accreditation
Biochemical diagnosis of Tyrosinemia type I (Analyte: Succinylacetone)
AMC - Academisch Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
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)

AUSTRIA

TIROL
INNSBRUCK

Accreditation
Molecular diagnosis of Tyrosinemia type 1 (FAH 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

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Aminoacidopathies (by aminoacid analysator & tandem MS : serum, urine, CSF)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Biochemical diagnosis of Tyrosinemia I (SuccinylAcetone: tandem MS, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene)
MVZ Fenner & Krasemann
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Baden-Württemberg
FREIBURG

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene)
Praxis für Humangenetik Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

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

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of tyrosinemia type 1 (FAH gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of metabolic liver diseases (Panel)
GHU 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)

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Tyrosinaemia type 1 (common mutations and sequencing)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis

SPAIN

Murcia
EL PALMAR

Accreditation
Diagnosis of tyrosinemia type 1 (tandem mass spectrometry)
Centro de Bioquímica y Genética Clínica
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics, Other
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of PKU and Tyrosinaemia (Analyte: Phenylalanine / Tyrosine)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of Tyrosinaemia type I (Analyte: Quantitative succinylacetone urine)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative and Qualitative amino acids)
The Sheffield Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Biochemical diagnosis of PKU and Tyrosinaemia (Analyte: Phenylalanine / Tyrosine)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Accreditation
Biochemical diagnosis of Tyrosinaemia type I (Analyte: Succinyl acetone)
The Great North Children's Hospita, Royal Victoria Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation
Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Strathclyde
GLASGOW

Accreditation
Biochemical diagnosis of PKU and Tyrosinaemia (Analyte: Phenylalanine / Tyrosine)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of the disorders of Amino Acid Metabolism (Analyte: Amino Acids, qualitative and quantitative)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater Manchester
MANCHESTER

Accreditation
Biochemical diagnosis of PKU & Tyrosinaemia (Analyte: Phenylalanine & tyrosine)
St Mary's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hamburg
HAMBURG

Accreditation
Biochemical diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
UKE - Universitätsklinikum Hamburg-Eppendorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Biochemical diagnosis of Tyrosinaemia type I (Analyte: Succinyl acetone)
Alder Hey Children's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Biochemical diagnosis of Tyrosinemia type 1 (Fumarylacetoacetase deficiency, analyte: Fumarylacetoacetase)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Hampshire
SOUTHAMPTON

Accreditation
Biochemical diagnosis of Tyrosinaemia type I (Analyte: Succinyl acetone)
Southampton General Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Avon
BRISTOL

Accreditation
Biochemical diagnosis of Tyrosinaemia type I (Analyte: Succinyl acetone)
Bristol Royal Infirmary
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Accreditation
Biochemical diagnosis of Tyrosinaemia type I (Analyte: Succinyl acetone)
Addenbrooke's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Tyrosinemia type 1 (Fumarylacetoacetase activity)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Amino Acid Metabolism and Transport Defects (Analyte: Amino Acids in plasma (D- and L-Amino Acids), urine and CSF (D- and L-Amino Acids), quantitative)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
MONT-ROYAL, MONTRÉAL

Accreditation
Molecular diagnosis of tyrosinemia type 1 (FAH gene / mutations IVS12+5G>A, p.W262X)
PROCREA Cliniques
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Biochemical diagnosis of Aminoacidopathies (by aminoacid analysator & tandem MS : serum, urine, CSF)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

West Midlands
BIRMINGHAM

Accreditation
Molecular diagnosis of Tyrosinemia (Type I) by sequencing of the entire coding region of gene (s) (FAH gene)
Birmingham Children's Hospital NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Molecular diagnosis of Tyrosinemia type 1 (FAH gene)
Sahlgrenska Universitessjukhuset
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Niedersachsen
RONNENBERG

Accreditation
Newborn screening : Biochemical diagnosis of tyrosinemia type 1 (Nitisinone, NTBC, 2-(2-Nitro-4-trifluormethyl-benzoyl)-1,3-cyclohexane dione, Succinylacetone in dried blood, serum, plasma)
Screening-Labor Hannover
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Biochemical diagnosis of amino acid metabolism diseases (amino acid in plasma/cerebrospinal fluid/urine)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Accreditation
Biochemical diagnosis of tyrosinaemia type I (Analyte: Quantitative succinylacetone in plasma /urine, porphobilinogen synthase activity in erythrocytes)
Sahlgrenska Universitessjukhuset
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
HAMILTON

Accreditation
Biochemical Diagnosis of Organic Acid Disorder (Urine)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Ontario
HAMILTON

Accreditation
Biochemical Analysis of Amino Acids (UPLC plasma)
McMaster University Medical Centre
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Biochemical diagnosis of tyrosinemia type 1
CHU de Lyon HCL - GH Est
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

ILE-DE-FRANCE
PARIS

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

ITALY

SARDEGNA
CAGLIARI

Biochemical diagnosis of tyrosinemia type 1 and 2
Ospedale Regionale per le Microcitemie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

País Vasco
BARAKALDO

Biochemical diagnosis of tyrosinemia type 1, 2 and 3
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ESTONIA

Tartu
TARTU

Diagnosis of amino acid disorders: quantitative amino acid analysis (HPLC)
Tartu University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

País Vasco
BARAKALDO

Molecular diagnosis of tyrosinemia type 1 (FAH gene)
Hospital Universitario Cruces - Osakidetza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Madrid
CANTOBLANCO

Biochemical and molecular diagnosis of the tyrosinemia (FAH gene)
Universidad Autónoma de Madrid. Facultad de Ciencias
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Diagnosis of tyrosinemia type 1 (FAH gene; SNP array)
Reprogenetics Spain S.A.
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics, Other
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing, PCR based techniques

ITALY

CAMPANIA
NAPOLI

Biochemical diagnosis of tyrosinemia
Biotecnologie Avanzate Srl
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Tyrosinaemia type I (Analyte: Succinyl acetone)
St Thomas' Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MONZA

Molecular diagnosis of type 1 tyrosinemia (FAH gene)
Consorzio per la Genetica Molecolare Umana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Andalucía
MÁLAGA

Diagnosis of tyrosinemia type 1 (FAH gene)
Genetaq
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : NGS sequencing (except WES), Sanger sequencing

PORTUGAL

NORTE
PORTO

Molecular diagnosis of Tyrosinemia I, II and III (FAH, TAT and HPD genes: Target mutation analysis - panel of mutations IVS7-6T>G, R341W, IVS6-1G>T, IVS12+5G>A, P261L for FAH gene and sequencing of the entire coding region for HPD and TAT genes)
CGC Genetics / Centro de Genética Clínica
Purpose(s) : Post-natal diagnosis, Somatic genetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of tyrosinemia type 1 (FAH gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

País Vasco
DERIO

Neonatal screening of tyrosinemia types 1, 2 and 3 (MS/MS)
Genetadi Biotech S.L.
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of tyrosinemia type 1 (FAH gene / c.1062+5G>A (IVS12+5 G>A), c.554-1G>T (IVS6-1 G>T), c.607-6T>G (IVS7-6 T>G), y p.Pro261Leu (P261L) mutations, entire coding sequence)
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)

CANADA

Québec
SHERBROOKE

Biochemical analysis of organic acids in urine by GC/MS
CHU Sherbrooke - Hôpital Fleurimont
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CANADA

Québec
MONTRÉAL

Biochemical diagnosis of Amino acid metabolism diseases (Analyte: Amino Acids in plasma/urine/CSF by HPLC, quantitative)
Montreal Children's hospital - Hôpital de Montréal pour enfants
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
FREIBURG

Molecular diagnosis of tyrosinemia type 1 (FAH gene)
Institut für Humangenetik am Universitätsklinikum Freiburg
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

GERMANY

Baden-Württemberg
FREIBURG

Biochemical diagnosis of amino acid metabolism diseases (amino acid in urine/serum)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
FREIBURG

Biochemical diagnosis of tyrosinemia type 1 (organic acids in urine, amino acid in blood, porphobilinogen synthase activity)
Zentrum für Kinder- und Jugendmedizin Freiburg
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
MADRID

Diagnosis of tyrosinemia type 1 (FAH 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)

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of tyrosinemia type 1 and 2 (sequence analysis of the entire coding region of FAH e TAT 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), Sanger sequencing

FRANCE

HAUTS-DE-FRANCE
LILLE

Diagnosis of inherited disorders of cholestasis (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
Technique(s) : NGS sequencing (except WES)

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Biochemical diagnosis of tyrosinemia (HPLC of amino acids)
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

BRETAGNE
BREST

Biochemical diagnosis of tyrosinemia type 1
CHU de Brest - Hôpital de la Cavale Blanche
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Diagnosis of tyrosinemia types 1, 2 and 3
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of tyrosinemia type 1, 2 and 3
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

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

FINLAND

Finland
HELSINKI

Biochemical diagnosis of tyrosinemia
Clinical Research Institute HUCH Ltd
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Biochemical diagnosis of tyrosinemia type I (metabolite analysis)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of tyrosinemia type 1 and 2
Azienda Ospedaliera Universitaria Anna Meyer
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NORMANDIE
ROUEN

Biochemical diagnosis of tyrosinemia types 1 and 2
CHU de Rouen - Hôpital Charles Nicolle
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Biochemical diagnosis of tyrosinemia types 1 and 2
CHU de Bordeaux-GH Pellegrin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

LITHUANIA

DZUKIJA
VILNIUS

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

LITHUANIA

DZUKIJA
VILNIUS

Biochemical diagnosis of tyrosine metabolism disorders by fluorometric detection
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

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

GERMANY

Baden-Württemberg
HEIDELBERG

Biochemical diagnosis of tyrosinemia type 1 (organic acids in urine, screening in dried blood)
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
GÖTTINGEN

Biochemical diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
Universitätsmedizin Göttingen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ISRAEL

ISRAEL
JERUSALEM

Molecular diagnosis of Tyrosinemia I (FAH, Linkage analysis, PGD)
Shaare Zedek Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
HOLON

Molecular diagnosis of Tyrosinemia type I (FAH, Mutation analysis, PGD)
Wolfson Medical Center
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ISRAEL

ISRAEL
JERUSALEM

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

NETHERLANDS

Zuid-Holland
CAPELLE AAN DEN IJSSEL

Tandem-MS diagnosis of tyrosinemia, type 1 (tyrosine#)
IJsselland Ziekenhuis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Noord-Brabant
TILBURG

Tandem-MS diagnosis of tyrosinemia, type 1 (tyrosine#)
St. Elisabeth Ziekenhuis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Overijssel
ZWOLLE

Tandem-MS screening of tyrosinemia, type 1 (succinylacetone)
Isala Klinieken, locatie Sophia
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
BILTHOVEN

Newborn screening: Tandem-MS diagnosis of Tyrosinemia type 1 (Analyte: Succinylacetone)
RIVM - Rijksinstituut voor Volksgezondheid en Milieu
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Biochemical diagnosis of Amino acid metabolism diseases
Universitätsklinikum Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Biochemical diagnosis of Amino acid metabolism diseases
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
National Hospital for Neurology and Neurosurgery
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
BARCELONA

Diagnóstico de la tirosinemia tipo 1 (gen FAH)
Hospital Universitari Vall d'Hebron
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Targeted mutation analysis, Analyte / Enzyme assay
Technique(s) : Sanger sequencing

CZECH REPUBLIC

Capital City Prague
PRAHA

Molecular diagnosis of tyrosinemia type 1 (FAH gene)
Charles University - First faculty of medicine
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

UNITED KINGDOM

Lothian
EDINBURGH

Biochemical diagnosis of Aminoacidopathies (Analyte: Quantitative amino acids)
Royal Hospital for Sick Children
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analytes: Phenylalanine/Tyrosine)
Great Ormond Street Hospital for Children, NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

Biochemical diagnosis of Tyrosinemia type 1 (Fumarylacetoacetase deficiency, analyte: Fumarylacetoacetase)
Royal Group of Hospitals Belfast
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

NORTE
PORTO

Portuguese National Neonatal Screening Program (Guthrie test)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of tyrosinemia type 1 (UHPLC/MS_MS analysis)
Hospital Universitari Sant Joan de Déu
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Biochemical diagnosis of tyrosinemia type 1
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

PUGLIA
FOGGIA

Biochemical diagnosis of tyrosinemia type 1 and 2 (tandem mass spectrometry)
Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Niedersachsen
HANNOVER

Biochemical diagnosis of Amino acid metabolism diseases (amino acid in urine/plasma/liquor)
Medizinische Hochschule Hannover
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

GRAND-EST
REIMS

Biochemical diagnosis of tyrosinemia type 1 and 2 (chromatography of aminoacids)
CHU de Reims - American Memorial Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

West Yorkshire
LEEDS

Biochemical diagnosis of Phenylalanin or Tyrosine metabolism disorder (Analyte: Phenylalanine/Tyrosine)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

AUSTRIA

WIEN
WIEN

Austrian newborn screening program for inherited metabolic and endocrine disorders
Allgemeines Krankenhaus der Stadt Wien
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of tyrosinemia type 1 (FAH gene)
Igenomix Spain
Purpose(s) : Pre-implantation diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technique(s) : PCR based techniques

UNITED KINGDOM

Merseyside
LIVERPOOL

Biochemical diagnosis of Alkaptonuria (AKU) (Analyte: Human Granulocytic Anaplasmosis (HGA), tyrosine, nitisinone)
Royal Liverpool University Hospital NHS - Duncan Building
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Biochemical diagnostic of tyrosinemia type 1 (chromatography of amino acids and organic acids)
CHU de Nancy - Hôpitaux de Brabois
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Hessen
FRANKFURT AM MAIN

Biochemical diagnosis of Amino acid metabolism diseases (amino acids in plasma, serum, urine, liquor)
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of tyrosinemia (FAH, TAT, HPD 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
Technique(s) : Sanger sequencing

CANADA

Alberta
EDMONTON

Biochemical Analysis of Amino Acids (urine and blood)
University of Alberta Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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) : 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)

AUSTRIA

STEIERMARK
GRAZ

Molecular diagnosis of Tyrosinemia type 1 (FAH gene)
Medizinische Universität Graz
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing