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FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Accreditation
Neonatal screening of hypothyroidism
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Accreditation
Neonatal screening of congenital hypothyroidism
CHU de Lyon HCL - GH Est
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTS-DE-FRANCE
LILLE

Accreditation
Neonatal screening of congenital hypothyroidism
CHU de Lille - Centre de Biologie Pathologie Génétique
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Sachsen
DRESDEN

Accreditation
Newborn screening : Biochemical diagnosis of congenital hypothyroidism (TSH)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Molecular diagnosis of Intellectual Disability (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)

UNITED KINGDOM

Wiltshire
SALISBURY

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis)
Salisbury District Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Accreditation
Diagnosis of congenital hypogonadotropic hypogonadism (Panel)
CHU Paris-Sud - Hôpital de Bicêtre
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), Sanger sequencing, MLPA based techniques

SPAIN

Madrid
MAJADAHONDA

Accreditation
Diagnosis of rare genetic intellectual disability
Instituto de Salud Carlos III. Campus de Majadahonda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Whole Exome Sequencing (WES)

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Accreditation
Neonatal screening of hypothyroidism
CHU de Dijon - Plateau technique de Biologie
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Murcia
EL PALMAR

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

BELGIUM

ANTWERPEN
ANTWERPEN

Accreditation
Neonatal screening: Biochemical diagnosis of Congenital Hypothyroidism (TSH: GSP (Delfia method), bloodspots)
Provinciaal Centrum voor opsporing van Metabole Aandoeningen (PCMA) - Antwerpen
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

BELGIUM

LIEGE
LIEGE

Accreditation
Neonatal screening: Biochemical diagnosis of Congenital Hypothyroidism (TSH: ELISA, bloodspots)
CHU Sart Tilman - Liège
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

BOURGOGNE-FRANCHE-COMTE
BESANÇON

Accreditation
Neonatal screening of hypothyroidism
CHRU de Besançon - Hôpital Saint-Jacques
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

UNITED KINGDOM

West Yorkshire
LEEDS

Accreditation
Molecular Diagnosis of Male Infertility Due To Y Chromosome Deletions (DDX3Y, DAZ1, DAZ2, DAZ3, USP9Y genes: targeted mutation analysis / Testing for known mutations in family members)
St James's University Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis, Deletion / Duplication analysis

UNITED KINGDOM

Merseyside
LIVERPOOL

Accreditation
Molecular diagnosis of Hereditary Motor and Sensory Neuropathy (HMSN) by NGS: HMSN gene panel (Please refer to additional information: Genes concerned)
Liverpool Women's NHS Foundation Trust
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

GERMANY

Niedersachsen
RONNENBERG

Accreditation
Newborn screening : Biochemical diagnosis of congenital hypothyroidism (immunoassay, TSH)
Screening-Labor Hannover
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Biochemical genetics, Imaging
Objective(s) : Analyte / Enzyme assay, Protein expression
Technique(s) : Immunohistochemistry

FRANCE

ILE-DE-FRANCE
PARIS

Accreditation
Diagnosis of congenital hypogonadotropic hypogonadism (Panel)
CHU Paris - Hôpital Robert Debré
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), Sanger sequencing, PCR based techniques, MLPA based techniques

FRANCE

PAYS DE LA LOIRE
ANGERS

Neonatal screening of hypothyroidism
CHU d'Angers
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

VENETO
PADOVA

Postnatal molecular diagnosis of Charcot-Marie-Tooth disease (determined by Sanger sequencing and NGS)
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

NORMANDIE
CAEN

Neonatal screening of hypothyroidism
CHU de Caen - Hôpital de la Côte de Nacre
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

GRAND-EST
STRASBOURG

Neonatal screening of hypothyroidism
CHU de Strasbourg - Hôpital Civil
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

NOUVELLE AQUITAINE
PESSAC

Neonatal screening of hypothyroidism
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

HAUTS-DE-FRANCE
LILLE

Neonatal screening of hypothyroidism
Centre régional de dépistage néonatal
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

FRANCE

PAYS DE LA LOIRE
NANTES

Neonatal screening of hypothyroidism
CHU de Nantes - Hôpital mère-enfant
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LIGURIA
GENOVA

Biochemical neonatal screening of congenital hypothyroidism
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Molecular diagnosis of congenital hypothyroidism
Croce Rossa Italiana
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ROMANIA

CLUJ
CLUJ

Biochemical diagnosis of congenital hypothyroidism
Spitalul de Pediatrie Copii Cluj
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

CYPRUS

Cyprus
LIMASSOL

Neonatal screening of congenital hypothyroidism
Centre for preventive paediatrics
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

LITHUANIA

DZUKIJA
VILNIUS

Biochemical neonatal screening of congenital hypothyroidism
Vilnius University Hospital Santariskiu Klinikos
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LOMBARDIA
MILANO

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

ITALY

PIEMONTE
TORINO

Biochemical diagnosis of congenital hypothyroidism
A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Baden-Württemberg
HEIDELBERG

Newborn screening : Biochemical diagnosis of congenital hypothyroidism
Dietmar-Hopp-Stoffwechselzentrum
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Zuid-Holland
CAPELLE AAN DEN IJSSEL

Immunochemical diagnosis of congenital hypothyroidism (TSH, TBG)
IJsselland Ziekenhuis
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Protein expression
Technique(s) : Immunohistochemistry

NETHERLANDS

Utrecht
BILTHOVEN

Newborn screening: Biochemical diagnosis of Congenital Hypothyroidism (Analyte: Thyroxine, Thyroid-Stimulating Hormone and Thyroxine-Binding Globulin)
RIVM - Rijksinstituut voor Volksgezondheid en Milieu
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

CALABRIA
CATANZARO

Biochemical diagnosis of congenital hypothyroidism
Azienda Ospedaliera "Mater Domini"
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

MOROCCO

Rabat
RABAT

Molecular diagnosis of male infertility due to Y chromosome deletions (AZF)
Institut National d'Hygiène
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

FINLAND

Finland
KUOPIO

Molecular diagnosis of familial hypothyroidism (SCL5A5, SLC26A4, TG, TPO, DUOX2, DUOXA2, NKX2-1, TSHR, PAX8, TSHB, NKX2-5, FOXE1 and IYD(DEHAL1) genes)
University of Eastern Finland
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : NGS sequencing (except WES)

CANADA

Alberta
EDMONTON

Alberta Newborn Screening Test (17 disorders)
University of Alberta Hospital
Purpose(s) : Newborn screening
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay