x

Search for a diagnostic test

* (*) mandatory field

101 Result(s)

List of diseases tested (132)

2-hydroxyglutaric aciduria
3-hydroxyisobutyric aciduria
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 4
5-oxoprolinase deficiency
Adenine phosphoribosyltransferase deficiency
Alkaptonuria
Alpha-mannosidosis
Argininemia
Argininosuccinic aciduria
Aromatic L-amino acid decarboxylase deficiency
Beta-ketothiolase deficiency
Beta-mannosidosis
Bifunctional enzyme deficiency
Canavan disease
Carbamoyl-phosphate synthetase 1 deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Carnosinase deficiency
Cholesteryl ester storage disease
Citrullinemia
Classic homocystinuria
Coenzyme Q10 deficiency
Cystinosis
Cystinuria
D-glyceric aciduria
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinuria
Encephalopathy due to sulfite oxidase deficiency
Ethylmalonic encephalopathy
Fatal infantile cytochrome C oxidase deficiency
Fructose-1,6-bisphosphatase deficiency
Fucosidosis
Fumaric aciduria
GM1 gangliosidosis
Galactosemia
Gamma-aminobutyric acid transaminase deficiency
Gamma-glutamyl transpeptidase deficiency
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Glutaryl-CoA dehydrogenase deficiency
Glutathione synthetase deficiency
Glycogen storage disease due to acid maltase deficiency
Guanidinoacetate methyltransferase deficiency
Gyrate atrophy of choroid and retina
Hartnup disease
Hawkinsinuria
Hereditary fructose intolerance
Hereditary orotic aciduria
Hereditary xanthinuria
Histidinemia
Homocystinuria without methylmalonic aciduria
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperlysinemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Hyperprolinemia type 1
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Infantile Refsum disease
Isolated complex I deficiency
Isolated complex III deficiency
Isolated glycerol kinase deficiency
Isolated succinate-CoQ reductase deficiency
Isovaleric acidemia
Kearns-Sayre syndrome
Krabbe disease
Leber hereditary optic neuropathy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lysinuric protein intolerance
MELAS
MERRF
MPI-CDG
Malonic aciduria
Maple syrup urine disease
Medium chain acyl-CoA dehydrogenase deficiency
Menkes disease
Metachromatic leukodystrophy
Methylmalonic acidemia with homocystinuria
Mevalonic aciduria
Mitochondrial DNA depletion syndrome
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Mitochondrial trifunctional protein deficiency
Mucolipidosis type IV
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 3
Mucopolysaccharidosis type 4
Mucopolysaccharidosis type 6
Multiple acyl-CoA dehydrogenase deficiency
Multiple carboxylase deficiency
NARP syndrome
Neonatal adrenoleukodystrophy
Neuronal ceroid lipofuscinosis
Niemann-Pick disease type A
Niemann-Pick disease type B
Ornithine transcarbamylase deficiency
PMM2-CDG
Pearson syndrome
Pentosuria
Phenylketonuria
Primary hyperoxaluria
Prolidase deficiency
Propionic acidemia
Purine nucleoside phosphorylase deficiency
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Refsum disease
Rhizomelic chondrodysplasia punctata
Sandhoff disease
Sarcosinemia
Severe combined immunodeficiency due to adenosine deaminase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Sialidosis type 1
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Systemic primary carnitine deficiency
TMEM70-related mitochondrial encephalo-cardio-myopathy
Tay-Sachs disease
Tyrosinemia type 1
Tyrosinemia type 2
Very long chain acyl-CoA dehydrogenase deficiency
Vitamin B12-responsive methylmalonic acidemia
Vitamin B12-unresponsive methylmalonic acidemia
Wilson disease
Wolman disease
X-linked adrenoleukodystrophy
Zellweger syndrome

List of genes tested (including panels) (15)

By clicking on the links above you will be redirected to the corresponding disease or gene page

Diagnostic test(s) performed in the laboratory (101)

ITALY

LAZIO
ROMA

Biochemical diagnosis of phenylketonuria, typical and atypical
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of alkaptonuria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of tyrosinemia type 1, 2 and 3
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of hawkinsinuria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of aromatic L-aminoacid decarboxylase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of histidinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of carnosinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of 5-oxoprolinase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of gamma-glutamyl transpeptidase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of pyroglutamicaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of hyperprolinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of prolidase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of hyperornithinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Diagnosis of triple H syndrome
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of argininosuccinicaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of carbamoylphosphatase synthetase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of argininemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of citrullinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of ornithine carbomoyltransferase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of N-acetylglutamate synthetase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of glutaryl-CoA dehydrogenase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of hyperlysinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of homocystinuria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of N5-methylhomocysteine transferase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of sulfite oxidase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of sarcosinemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of 4-hydroxybutyricaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of gamma aminobutyric acid transaminase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of homocarnosinosis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of lysinuric protein intolerance
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of dibasicaminoaciduria type 1
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Hartnup syndrome
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of cystinosis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of cystinuria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of leucinosis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of acidemia and methylmalonicaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of propionic acidemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of isovaleric acidemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of 3-methylglutaconicaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of mevalonicaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of betaketothiolase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of multiple carboxylase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Canavan's disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of 2-hycroxyglutaricaciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of fructose intolerance
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of galactosemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of glycogen storage disease type 2
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of pentosuria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of hyperoxaluria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of hyperglycerolemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of D-glycericacidemia
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of pyruvate carboxylase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of pyruvate dehydrogenase deficiency (DLAT, DLD, PDHA1, PDHB, PDHX, PDP1 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of fumaric aciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of respiratory chain defects and mitochondrial ATP synthesis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of orotic aciduria hereditary
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Tay-Sachs disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Gaucher disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of neuronal ceroid lipofuscinosis (CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of mucopolysaccharidosis, type 1, 2, 3, 4, 6
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of mannosidosis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of fucosidosis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of CDG syndrome, 1a and 1b type
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of chondrodysplasia punctata, rhizomelic form
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of autosomal adrenoleukodystrophy, neonatal and pseudoneonatal form
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of deficiency of acyl-CoA dehydrogenase, short, medium and very long chain
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of multiple acyl-CoA deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of ethylmalonic aciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of deficiency of 3-hydroxyacyl-CoA dehydrogenase, long and short chain
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of mitochondrial trifunctional protein deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of carnitine-palmitoyl transferase deficiency, 1 and 2
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of carnitine uptake deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of carnitine-acylcarnitine translocase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of succinyl-CoA acetoacetate transferase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of malonic aciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of HPRT deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of severe combined immunodeficiency due to adenosine deaminase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of purine nucleoside phosphorylase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of xanthinuria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of molybdenum cofactor deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of 2,8 dihydroxyadenine urolithiasis
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of dihydropyrimidine and dihydropyrimidine dehydrogenase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of gangliosidosis GM1 and GM2
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemcial diagnosis of mucolipidosis type 4
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Krabbe disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of metachromatic leukodystrophy
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Niemann-Pick disease type A and B
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Wolman disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Refsum disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical and molecular diagnosis of Smith-Lemli-Opitz syndrome (DHCR7 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics, Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Zellweger syndrome
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of sialidosis type 1 and 2
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Refsum disease, infantile form
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of X-linked adrenoleukodystrophy
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of bifunctional enzyme deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of guanidinoacetate methyltransferase deficiency
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Menkes syndrome
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of Wilson disease
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of ethylmalonic encephalopathy
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay

ITALY

LAZIO
ROMA

Biochemical diagnosis of 3-hydroxyisobutyric aciduria
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay