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FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation Dosage of urine porphyria and its urine precursors (ALA, PBG)
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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NETHERLANDS

Zuid-Holland
ROTTERDAM

Accreditation Diagnosis of Porphyria (heme biosynthesis intermediates in urine, faeces and blood using ion-exchange chromatography, fluorimetry, haematofluorimetry, plasma emission scanning and HPLC with fluorescent detection)
Erasmus MC - Erasmus Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Accreditation Diagnosis of inborn errors of metabolism (Whole Exome)
Eurofins Biomnis
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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NORWAY

Vestlandet
BERGEN

Accreditation Molecular diagnosis of porphyria (CPOX, PPOX, FECH, HMBS and UROD genes)
Haukeland University Hospital
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

Brandenburg
COTTBUS

Accreditation Diagnosis of porphyria
Carl-Thiem-Klinikum Cottbus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Bayern
MÜNCHEN

Accreditation Diagnosis of porphyria
LMU Klinikum der Universität München - Campus Großhadern
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of rare inborn errors of metabolism (Whole exome)
CHU de Nancy - Hôpitaux de Brabois
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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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Diagnosis of porphyria (dosage of uroporphyrin, coproporphyrin, delta-aminolevulinic acid and porphobilinogen in urin)
CHU de Marseille - Hôpital de la Timone
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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IRELAND

County Dublin
DUBLIN

Biochemical diagnosis of Porphyrias (Biochemical diagnosis of the Porphyria's (Analysis of intermediates of Haem biosynthesis in urine, faeces and blood using ion-exchange chromatography, fluorimey, haematofluorimetry, plasma emission scanning and HPLC with fluorescent detection)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics, Other
Objective(s) : Analyte / Enzyme assay

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HUNGARY

Dél-Alföld
SZEGED

Biochemical diagnosis of porphyria : dosage of urine, blood and fecal porphyria and its urine precursors (ALA, PBG)
University of Szeged - Dpt of Dermatology and Allergology
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater London
LONDON

Biochemical diagnosis of the Porphyria's (Analysis of intermediates of Haem biosynthesis in urine, faeces and blood using ion-exchange chromatography, fluorimetry and HPLC)
King's College Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular diagnosis of congenital porphyria (UROS gene)
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

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ITALY

LAZIO
ROMA

Biochemical diagnosis of porphyria (dosage of urine, blood and fecal porphyria and its urine precursors)
FIAGOP Onlus
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Biochemical diagnosis of porphyria
Universitätsklinikum Düsseldorf
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay, Protein expression
Technique(s) : Immunohistochemistry

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GERMANY

Sachsen
CHEMNITZ

Diagnosis of porphyria
Klinikum Chemnitz gGmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

West Yorkshire
LEEDS

Biochemical diagnosis of the Porphyrias
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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UNITED KINGDOM

Greater Manchester
SALFORD

Biochemical diagnosis of the Porphyrias
Salford Royal NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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SPAIN

Cataluña
BARCELONA

Diagnosis of porphyria (porphyrins in urine/faeces/blood; enzime assay)
Hospital Clínic de Barcelona
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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POLAND

Warszawa
WARSAW

Biochemical diagnosis of porphyria (urine, blood and fecal HPLC) and its urine precursors (ALA, PBG)
IHIT Instytut Hematologii I Transfuzjologii
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

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