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GERMANY

Nordrhein-Westfalen
DORTMUND

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Rheinland-Pfalz
INGELHEIM AM RHEIN

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene: D70G and A539T)
Bioscientia Institut für Medizinische Diagnostik GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

GERMANY

Hamburg
HAMBURG

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Labor Lademannbogen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene: sequencing)
Diagenom GmbH
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
Diagnosis of Neurotransmission Anomalies (Analyte: Free Catecholamines, Metanephrines, MHPG and Phenolic Acids)
Amsterdam UMC, locatie AMC
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of 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)

GERMANY

Bayern
MARTINSRIED/PLANEGG

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
MVZ Martinsried GmbH
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
Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
SYNLAB MVZ Freiburg GmbH
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Accreditation
Molecular diagnosis of susceptibility to butyrylcholinesterase deficiency (BCHE gene)
Reference Laboratory Genetics
Purpose(s) : Post-natal diagnosis, Risk assessment
Specialty(ies) : Molecular genetics

GERMANY

Nordrhein-Westfalen
KÖLN

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
laboratoriumsmedizin köln - Dres. med. Wisplinghoff und Kollegen
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Diagnosis of Butyrylcholinesterase Deficiency (BCHE 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

ILE-DE-FRANCE
SAINT-MANDÉ

Accreditation
Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Hôpital d'Instruction des Armées Bégin
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

NETHERLANDS

Gelderland
NIJMEGEN

Accreditation
Biochemical diagnosis of Pseudocholinesterase Deficiency (Analyte: Pseudocholinesterase)
Radboudumc - Radboud universitair medisch centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

SPAIN

Madrid
SAN SEBASTIÁN DE LOS REYES

Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
LabGenetics - Laboratorio de Genética Clínica, S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis, Pre-symptomatic diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
PATERNA

Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Sistemas Genómicos S.L.
Purpose(s) : Antenatal diagnosis, Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing

SPAIN

Comunidad Valenciana
ELCHE

Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

SWITZERLAND

Suisse Romande
LAUSANNE

Analysis of BCHE gene (293A>G, F1-c.812C>T, F2-c.1253G>T, K-c.1699G>A)
Gene Predictis SA
Purpose(s) : Pharmacogenetics
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : PCR based techniques

SPAIN

La Rioja
LOGROÑO

Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Hospital San Pedro
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)

ITALY

LOMBARDIA
MILANO

Molecular diagnosis of butyrylcholinesterase deficiency (BCHE gene)
ASST Grande Ospedale Metropolitano Niguarda
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : NGS sequencing (except WES)

IRELAND

County Dublin
DUBLIN

Molecular diagnosis of Pseudocholinesterase deficiency by Pseudocholinesterase genotyping (BCHE gene)
St James's Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technique(s) : Sanger sequencing

UNITED KINGDOM

Avon
BRISTOL

Molecular diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Southmead Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

PORTUGAL

SUL
LISBOA

Diagnosis of butyrylcholinesterase deficiency (BCHE gene)
Faculdade de Medicina da Universidade de Lisboa
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technique(s) : Sanger sequencing