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ITALY

LAZIO
ROMA

Molecular diagnosis of adrenoleukodystrophy (ABCD1 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC1, HEPACAM genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of cystic leukoencephalopathy without megalencephaly (RNASET2 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Friedreich ataxia (FXN gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of spastic ataxia, Charlevoix-Saguenay type (SACS gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of spinal muscular atrophy (SMN1, SMN2 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Duchenne and Becker muscular dystrophy (DMD gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Emery-Dreifuss muscular dystrophy (LMNA gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of congenital muscular dystrophy (LMNA, FKRP, POMT1, POMT2 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of nemaline myopathy (TPM2, TPM3 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of centronuclear myopathy (MTM1, DNM2 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of ceroid lipofuscinosis (PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, CTSD genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

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

ITALY

LAZIO
ROMA

Molecular diagnosis of cleidocranial dysplasia (RUNX2 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of autosomal recessive nonsyndromic sensorineural deafness (GJB2 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of bilateral frontoparietal polymicrogyria (GPR56 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Marinesco-Sjögren syndrome (SIL1 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of ataxia - oculomotor apraxia type 1 (APTX gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of ataxia - oculomotor apraxia type 2 (SETX gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of spastic paraplegia (SPAST, ATL1, SPG11, SPG15 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of bilateral striatal necrosis (NUP62, SLC25A19 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of propionic acidemia (PCCA, PCCB genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Brown-Vialetto-Van Laere syndrome (SLC52A3 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of triple H syndrome (SLC25A15 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of MELAS syndrome (MT-TL1, MT-TK, MT-TS1, MT-TH genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of MERRF syndrome (MT-TK, MT-TS1, MT-TH genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Kearns-Sayre syndrome (mtDNA deletions)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics
Objective(s) : Deletion / Duplication analysis

ITALY

LAZIO
ROMA

Molecular diagnosis of progressive external ophtalmoplegia (POLG1, RRM2B, C10ORF2 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Leber hereditary optic neuropathy (MT-ND1, MT-ND4, MT-ND6 genes)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of NARP/MILS syndrome (MT-ATP6 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of mitochondrial DNA depletion syndrome, myopathic form (TK2 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of Niemann-Pick disease type C (NPC1 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Molecular diagnosis of peroxisomal acyl-CoA oxidase deficiency (ACOX1 gene)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Molecular genetics

ITALY

LAZIO
ROMA

Biochemical diagnosis of fucosidosis (fluorometric determination of alpha-fucosidase)
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 Fabry disease (fluorometric determination of alpha-galactosidase)
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 alpha-mannosidosis (fluorimetric determination of alpha-mannosidase)
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 beta-mannosidosis (fluorometric determination of beta-mannosidase)
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 (fluorometric determination of arylsulfatase A)
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 mucopolysaccharidosis type VI (fluorometric determination of arylsulfatase 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 Tay-Sachs disease (fluorometric determination of beta-hexosaminidase A)
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 Sandhoff disease (fluorometric determination of total beta-hexosaminidase)
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 (fluorometric determination of beta-glucosidase)
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 GM1 gangliosidosis (fluorometric determination of beta-galactosidase)
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 (fluorometric determination of galactocerebrosidase)
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 (fluorometric determination of acid lipase)
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 (fluorometric determination of acid maltase)
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 CLN1 disease (fluorometric determination of palmitoyl-protein-thioesterase)
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 (fluorometric determination of tripeptidyl-peptidase I)
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 typa A and B (fluorometric determination of sphingomyelinase)
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 Hurler syndrome (fluorometric determination of alpha-iduronidase)
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 Hurler syndrome (fluorometric determination of iduronate-2-sulfatase)
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 Sanfilippo syndrome type B (fluorometric determination of alpha-hexosaminidase)
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 Sanfilippo syndrome type C (fluorometric determination of alpha-glucosaminide-N-acetyltransferase)
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 Sanfilippo syndrome type D (fluorometric determination of N-acetylglucosamine-6-sulfate sulfatase)
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 mucopolysaccharidosis type 4 (fluorometric determination of galactose-6-sulfate sulfatase)
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 mucopolysaccharidosis type 7 (fluorometric determination of beta-glucuronidase)
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 mucopolysaccharidosis type IX (fluorometric determination of hyaluronidase)
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 2 (fluorometric determination of neuroaminidase)
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 alpha-N-acetylgalactosaminidase deficiency (fluorometric determination of alpha-N-acetylgalactosaminidase)
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 mucolipidosis type 2 (fluorometric determination of arylsulfatase A and total hexosaminidase)
IRCCS Ospedale Pediatrico Bambino Gesł - SEDE SAN PAOLO
Purpose(s) : Post-natal diagnosis
Specialty(ies) : Biochemical genetics
Objective(s) : Analyte / Enzyme assay