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Titel : Accreditatie =Accreditatie
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ITALI╦

SARDEGNA
CAGLIARI

Biochemical and molecular diagnosis of phenylketonuria, typical and atypical (PAH gene)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica, Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of tyrosinemia type 1 and 2
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of cystinuria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of Gaucher disease
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of Fabry disease
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of alpha-mannosidosis
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6, 7
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of aspartylglycosaminuria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of Canavan disease
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of fucosidosis
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of glycogen storage disease type 2
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of ornithine carbamoyltransferase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of homocystinuria due to cystathionine beta-synthase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of Zellweger syndrome
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of isovaleric acidemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of 4-hydroxybutyricaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of mevalonicaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of orotic aciduria hereditary
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of alkaptonuria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of argininemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosi of argininosuccinicaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of carbamoylphosphate synthetase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of multiple carboxylase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of homocystinuria due to defect in methylation, MTHFR deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of leucinosis
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of methylmalonicaciduria with homocystinuria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of pyroglutamicaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of 3-methylglutaconicaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of betaketothiolase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of X-linked adrenoleukodystrophy
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of citrullinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of triple H syndrome (HHH)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of sarcosinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of lactic acidosis congenital infantile
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of carnosinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of homocystinuria due to defect in methylation (cbl E and G)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of succinic acidemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of mitochondrial trifunctional protein deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of malonic aciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of hyperornithinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of hyperlysinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of dicarboxylcaminoaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of 2-hydroxyglutaricaciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of cystathioninuria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of lysinuric protein intolerance
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of dibasicaminoaciduria type 1
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of tyrosine oxidase temporary deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of phosphoenolpyruvate carboxykinase deficiency (PEPCK)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of fumaric aciduria
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of succinate CoQ reductase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of CDG syndrome
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of deficiency of 3-hydroxyacyl-CoA dehydrogenase, short and long chain
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of isolated nonketonic hyperglycinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of propionic acidemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of glutaryl-CoA dehydrogenase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of deficiency of acyl-CoA dehydrogenase, medium, short and very long chain
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of enolase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of hyperprolinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of 5-oxoprolinase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of respiratory chain multiple deficiences
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of 3-hydroxy 3-methylglutaryl-CoA synthase (HMG)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of arginine:glycine amidinotransferase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of tyrosine hydroxylase deficiency
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Biochemical diagnosis of histidinemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Biochemische genetica
Doel : Analyt/Enzymtest

ITALI╦

SARDEGNA
CAGLIARI

Molecular diagnosis of alpha, beta, gamma and delta thalassemia
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

SARDEGNA
CAGLIARI

Molecular diagnosis of pyruvate kinase deficiency (PKLR gene)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

SARDEGNA
CAGLIARI

Molecular diagnosis of glucose-6-phosphate-dehydrogenase deficiency (G6PD gene)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

SARDEGNA
CAGLIARI

Molecular diagnosis of neutropenia cyclic (ELANE gene)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica

ITALI╦

SARDEGNA
CAGLIARI

Molecular diagnosis of Gilbert syndrome (UGT1A1 gene)
Ospedale Regionale per le Microcitemie
Doelstelling(en) : Postnatale diagnose
Specialiteit(en) : Moleculaire genetica