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GERMANY

Baden-Württemberg
MANNHEIM

GERMANY

Bayern
NEU-ULM

NETHERLANDS

Zuid-Holland
ROTTERDAM

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Pompe Disease (GAA gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Glycogen Storage Disease type 0, 1A, 2, 3, 4, 5, 6, 7, 9A, 9B, 9C, 10, 11, 12 and 13 (GYS1, GYS2, G6PC, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PGAM2, LDHA, ALDOA and ENO3 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

FRANCE

OCCITANIE
TOULOUSE

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

NETHERLANDS

Limburg
MAASTRICHT

NETHERLANDS

Limburg
MAASTRICHT

UNITED KINGDOM

Greater London
LONDON

Accreditation
Molecular diagnosis of Pompe disease (GAA gene)
Great Ormond Street Hospital for Children, York House

UNITED KINGDOM

South Yorkshire
SHEFFIELD

AUSTRIA

TIROL
INNSBRUCK

GERMANY

Baden-Württemberg
KARLSRUHE

GERMANY

Bayern
MÜNCHEN

GERMANY

Bayern
MÜNCHEN

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Diagnosis of metabolic myopathy (gene panel)
Reference Laboratory Genetics

GERMANY

Bayern
WÜRZBURG

FRANCE

GRAND-EST
STRASBOURG

Accreditation
Diagnosis of myopathy (Panel)
CHU de Strasbourg - Hôpital Civil

FRANCE

OCCITANIE
TOULOUSE

Accreditation
Diagnosis of metabolism disorders (Panel)
CHU de Toulouse - Hôpital Purpan

GERMANY

Bayern
MARTINSRIED

Accreditation
Molecular diagnosis of glycogen storage disease type 2 (GAA gene)
Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ)

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Molecular diagnosis of glycogen storage disease type 1, 2 and 5 (GAA, G6PC, PYGM, SLC37A4 genes)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Glycogen Storage Disease (gene panel; MET06v16.2)
UMC Utrecht - Universitair Medisch Centrum Utrecht

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Diagnosis of glycogenosis (Panel)
CHU de Lyon HCL - GH Est

GERMANY

Bayern
MÜNCHEN

GERMANY

Hamburg
HAMBURG

UNITED KINGDOM

Greater Manchester
MANCHESTER

ISRAEL

ISRAEL
JERUSALEM

Accreditation
Molecular and Biochemical diagnosis of Pompe disease (GAA, a-glucosidase analysis)
Hadassah Ein Kerem - Hebrew University Medical Center

NETHERLANDS

Noord-Holland
AMSTERDAM

UNITED KINGDOM

West Midlands
BIRMINGHAM

SPAIN

Comunidad Valenciana
PATERNA

NETHERLANDS

Utrecht
UTRECHT

NETHERLANDS

Utrecht
UTRECHT

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

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Biochemical diagnosis of Pompe Disease (Analyte: alpha-D-Glucosidase)
Radboudumc - Radboud universitair medisch centrum

SWEDEN

Västra Götalandsregionen
GÖTEBORG

ITALY

LIGURIA
GENOVA

ITALY

SARDEGNA
CAGLIARI

Biochemical diagnosis of glycogen storage disease type 2
Ospedale Regionale per le Microcitemie

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Biochemical diagnosis of glycogen storage disease type 2 (acid maltase activity)
CHU de Grenoble site Nord - Institut de biologie et de pathologie

SPAIN

Madrid
MADRID

Molecular diagnosis of the glycogen storage disease type 2 (GAA gene)
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)

GERMANY

Niedersachsen
OSNABRÜCK

ITALY

FRIULI VENEZIA GIULIA
UDINE

AUSTRIA

WIEN
WIEN

Molecular diagnosis of Pompe disease (GAA gene)
Medizinische Universität Wien

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Molecular Diagnosis of Pompe Disease (GAA gene)
Universitair Ziekenhuis Brussel - UZ Brussel

GERMANY

Baden-Württemberg
STUTTGART

GERMANY

Nordrhein-Westfalen
KÖLN

FRANCE

ILE-DE-FRANCE
PARIS

SPAIN

Madrid
MADRID

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

GERMANY

Rheinland-Pfalz
MAINZ

ITALY

LOMBARDIA
MILANO

Biochemical diagnosis of glycogen storage disease type 2
Fondazione IRCCS Istituto Neurologico "Carlo Besta"

SPAIN

Cataluña
BARCELONA

ITALY

CAMPANIA
NAPOLI

Enzymatic diagnosis of Pompe disease
Azienda Ospedaliera Universitaria "Federico II"

GERMANY

Bayern
MÜNCHEN

ITALY

LAZIO
ROMA

Biochemical diagnosis of glycogen storage disease type 2
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO

PORTUGAL

NORTE
PORTO

Biochemical and molecular diagnosis of glycogen storage disease type 2 (GAA gene)
CGMJM - Centro de Genética Médica Jacinto Magalhães

ITALY

VENETO
PADOVA

Molecular and biochemical diagnosis of glycogen storage disease type 2 (GAA gene)
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Molecular diagnosis of glycogen storage disease type 2 (GAA gene)
Albrecht-Kossel-Institute for Neuroregeneration (AKos)

BULGARIA

 South-West region
SOFIA

Biochemical diagnosis of glycogen storage disease type 2 by enzyme assay
University hospital of Obstetrics and Gynecology

ITALY

TOSCANA
FIRENZE

Biochemical diagnosis of glycogen storage disease type 2
Azienda Ospedaliera Universitaria Anna Meyer

LITHUANIA

DZUKIJA
VILNIUS

ITALY

PIEMONTE
TORINO

Screening for enzymatic activity in blood spot for Pompe disease
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita

GERMANY

Niedersachsen
GÖTTINGEN

UNITED KINGDOM

Antrim and Newtownabbey
BELFAST

UNITED KINGDOM

Greater London
LONDON

BELGIUM

OOST-VLAANDEREN
GENT

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical diagnosis of Pompe disease (alpha-glucosidase)
University Hospitals Leuven - Gasthuisberg

BELGIUM

VLAAMS BRABANT
LEUVEN

Biochemical follow-up of Myozyme therapy (Myozyme Ab)
University Hospitals Leuven - Gasthuisberg

NETHERLANDS

Zuid-Holland
ROTTERDAM

SWEDEN

Stockholms läns landsting
STOCKHOLM

ITALY

VENETO
PADOVA

Biochemical diagnosis of Pompe disease
Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Biochemical diagnosis of Pompe disease (analyte: alpha-glucosidase)
Universitair Ziekenhuis Brussel - UZ Brussel

GERMANY

Nordrhein-Westfalen
BONN

SPAIN

Cataluña
BARCELONA

Diagnosis of muscular glycogenosis
Hospital Clínic de Barcelona

ITALY

TOSCANA
SIENA

Enzymatic diagnosis of Pompe disease
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte

ITALY

EMILIA ROMAGNA
BOLOGNA

ITALY

MARCHE
ANCONA

Biochemical diagnosis of glycogen storage disease type 2 (alpha-glucosidase assay in lymphocytes)
Ospedali Riuniti "Umberto I - G.M. Lancisi - G. Salesi" - Presidio "G. Salesi"

SLOVAKIA

Bratislavsky kraj
BRATISLAVA

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

FRANCE

NORMANDIE
ROUEN

FRANCE

NORMANDIE
ROUEN

FRANCE

GRAND-EST
VANDOEUVRE-LÈS-NANCY

Diagnosis of lysosomal diseases (Panel)
CHU de Nancy - Hôpitaux de Brabois