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Titel : Accreditatie =Accreditatie
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ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of sialidosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of Prader-Willi/Angelman syndrome (SNRPN gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of mucosulfatidosis (SUMF1 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of Fabry disease
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of fucosidosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of galactosialidosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of GM1 and GM2/B gangliosidosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of Gaucher disease (GBA and PSAP genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of type 2 glycogen storage disease (GAA gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of Krabbe disease (GALCgene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of mannosidosis alpha and beta
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of metachromatic leukodystrophy (ARSA and PSAP genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of type 1, 2, 3, 4, 6 mucopolysaccharidosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of neuronal ceroid lipofuscinosis
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of Niemann-Pick disease type A and B (SMPD1 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of Pelizaeus-Merzbacher disease (PLP1 and GJC2 genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of pycnodysostosis (CTSK gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of Sandhoff disease
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of Wolman disease
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Screening of pseudoarylsulfatase A deficiency (ARSA gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of mucopolysaccharidosis type 2 (IDS gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of glycogen storage disease type 1A (G6PC gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of aspartylglucosaminuria
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of Salla disease (SLC17A5 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of Costello syndrome (HRAS gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Biochemical and molecular diagnosis of mucolipidosis type 2 and 3 (GNPTAB, GNPTG genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Biochemical diagnosis of Schindler disease
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of mucopolysaccharidosis type 3A and 3B (SGS and NAGLU genes)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of mucolipidosis type 4 (MCOLN1 gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

LIGURIA
GENOVA

Molecular diagnosis of GM2 gangliosidosis (GM2A gene)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica