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Caption : Accreditation =Accreditation
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NETHERLANDS

Zuid-Holland
LEIDEN

Accreditation
Biochemical diagnosis of Hexokinase Deficiency (Analyte: Hexokinase)
LUMC - Leids Universitair Medisch Centrum
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

GERMANY

Bayern
MÜNCHEN

Accreditation
Molecular diagnosis of non-spherocytic hemolytic anemia due to hexokinase deficiency (HK1 gene)
Medizinisch Genetisches Zentrum München
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Accreditation
Diagnosis of mitochondrial diseases (Panel)
CHU de Nice - Hôpital l'Archet 2
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Whole Exome Sequencing (WES)

NETHERLANDS

Utrecht
UTRECHT

Accreditation
Biochemical diagnosis of Hemolytic Anemia due to Hexokinase Deficiency (Hexokinase activity and kinetic properties)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

PORTUGAL

CENTRO
COIMBRA

Molecular diagnosis of hexokinase deficiency (HK1 gene): sequencing of the entire coding region.
Hosp. Pediátrico e Hosp. Covões - Centro Hospitalar e Universitário de Coimbra
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of nonspherocytic hemolytic anemia due to hexokinase deficiency (HK1 gene)
Sistemas Genómicos S.L.
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

SPAIN

Comunidad Valenciana
PATERNA

Molecular diagnosis of non-spherocytic hemolytic anemia due to hexokinase deficiency (HK1 gene / complete sequencing)
IMEGEN - Instituto de Medicina Genómica
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES), Sanger sequencing, Whole Exome Sequencing (WES)

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Diagnosis of constitutional hemolytic anemia (Panel)
CHU Henri Mondor
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 constitutional hemolytic anemia due to a red cell membrane anomaly (Panel)
CHRU de Montpellier - Hôpital Saint-Eloi
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

Comunidad Valenciana
ELCHE

Diagnosis of non-spherocytic hemolytic anemia due to hexokinase deficiency (HK1 gene)
Bioarray
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region
Technical procedure(s) : NGS sequencing (except WES)

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Diagnosis of rare hemolytic anemia (gene panel)
BLOODGENETICS S.L
Purpose(s) : Post-natal diagnosis, Pre-symptomatic diagnosis, Newborn screening
Specialty(ies) : Molecular genetics
Objective(s) : Sequence analysis: entire coding region, Deletion / Duplication analysis
Technical procedure(s) : NGS sequencing (except WES)

NETHERLANDS

Zuid-Holland
ROTTERDAM

Biochemical diagnosis of Hexokinase Deficiency (Analyte: Hexokinase)
Erasmus MC, Faculteitsgebouw
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

NETHERLANDS

Utrecht
UTRECHT

Molecular diagnosis of Hemolytic Anemia due to Hexokinase Deficiency (HK1 gene)
UMC Utrecht - Universitair Medisch Centrum Utrecht
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Targeted mutation analysis
Technical procedure(s) : Sanger sequencing

UNITED KINGDOM

Greater London
LONDON

Molecular diagnosis of non-spherocytic hemolytic anemia due to hexokinase deficiency (HK1 gene)
Hammersmith Hospital
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics