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Caption : Accreditation =Accreditation
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NETHERLANDS

Utrecht
UTRECHT

Accreditation
Molecular diagnosis of Familial Cold Autoinflammatory Syndrome type 1, 2 and 3 (NLRP3, NLRP12 and PLCG2 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : Sanger sequencing, MLPA based techniques

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

CANADA

Ontario
TORONTO

Accreditation
Molecular Diagnosis of Autoinflammatory Disease/Recurrent Fever Syndrome NGS Panel and Del/Dup Analysis (17 genes)
The Hospital for Sick Children and University of Toronto
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Array based techniques

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
Pränatalmedizin München
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

GERMANY

Baden-Württemberg
SINGEN /HTWL.

Accreditation
Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
Institut für Laboratoriumsmedizin und Humangenetik
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : Sanger sequencing

FINLAND

Finland
HELSINKI

Accreditation
Molecular diagnosis of Periodic Fever syndrome (NLRP3, NLRP12, ELANE, HAX1, MVK, LPIN2, MEFV, PSTPIP1, TNFRSF1A genes) Next-generation sequencing
Blueprint Genetics
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Molecular diagnosis of hereditary recurrent fevers (MEFV, MVK, NLRP3, NLRP12 and TNFRSF1A genes)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
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
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LIGURIA
GENOVA

Molecular diagnosis of NALP12-associated hereditary periodic fever syndrome (NLRP12 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Molecular diagnosis of NALP12-associated hereditary periodic fever syndrome (NLRP12 gene: entire coding region sequencing)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

ITALY

LAZIO
ROMA

Molecular diagnosis of hereditary periodic fever syndrome (NLRP3 and NLRP12 gene)
IRCCS Ospedale Pediatrico Bambino Gesù
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

FRANCE

NORD-PAS-DE-CALAIS
LILLE

Diagnosis of inflammatory bowel disease (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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

NORD-PAS-DE-CALAIS
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
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

LANGUEDOC-ROUSSILLON
MONTPELLIER

Diagnosis of autoinflammatory diseases (Panel)
CHRU de Montpellier - Hôpital Arnaud de Villeneuve
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

FRANCE

ILE-DE-FRANCE
PARIS

Diagnosis of autoinflammatory diseases (Panel)
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Mutation scanning/screening and sequence analysis of selected exons
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of NLRP12-associated hereditary periodic fever syndrome (NLRP12 gene)
Laboratorio de Genética Clínica, S.L.
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
Technical procedure(s) : Sanger sequencing