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Molecular diagnosis of hereditary liver diseases [panel of genes]

Laboratorio Research and Innovation s.r.l.
Research&Innovation S.r.l. (R&I Genetics)
Torre della Ricerca - C.so Stati Uniti 4 int F
35127 PADOVA
ITALY
Director of laboratory : Dr Alberta LEON
More information

Phone : 39 049 8705062
Additional Phone : -
Fax : 39 049 8706696
Website
Contact
email

Last update: May 2023

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Targeted mutation analysis

NGS sequencing (except WES)

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

Sequence analysis: entire coding region

Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (111)

APC-related attenuated familial adenomatous polyposis

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Adams-Oliver syndrome

Adult polyglucosan body disease

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alpers-Huttenlocher syndrome

Alpha-1-antitrypsin deficiency

Alström syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

Bardet-Biedl syndrome

Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 2

Bile acid CoA ligase deficiency and defective amidation

Cerebrotendinous xanthomatosis

Cholesteryl ester storage disease

Chronic visceral acid sphingomyelinase deficiency

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Citrullinemia type II

Classic galactosemia

Congenital bile acid synthesis defect type 1

Congenital bile acid synthesis defect type 2

Congenital bile acid synthesis defect type 3

Congenital bile acid synthesis defect type 4

Crigler-Najjar syndrome type 1

Crigler-Najjar syndrome type 2

Cystic fibrosis

Dubin-Johnson syndrome

Dyskeratosis congenita

Erythrocyte galactose epimerase deficiency

Familial hypercholanemia

Fanconi-Bickel syndrome

GRACILE syndrome

Galactokinase deficiency

Gardner syndrome

Gastric adenocarcinoma and proximal polyposis of the stomach

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Generalized galactose epimerase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

HJV or HAMP-related hemochromatosis

Hepatic veno-occlusive disease-immunodeficiency syndrome

Hereditary North American Indian childhood cirrhosis

Hereditary fructose intolerance

Hereditary hemorrhagic telangiectasia

Infantile Refsum disease

Infantile nephronophthisis

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile-onset spinocerebellar ataxia

Intrahepatic cholestasis of pregnancy

Isolated neonatal sclerosing cholangitis

Isolated polycystic liver disease

Joubert syndrome with hepatic defect

Juvenile nephronophthisis

Late-onset nephronophthisis

Low phospholipid-associated cholelithiasis

Lysinuric protein intolerance

MEDNIK syndrome

Meckel syndrome

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

NPHP3-related Meckel-like syndrome

Navajo neurohepatopathy

Neonatal adrenoleukodystrophy

Neonatal ichthyosis-sclerosing cholangitis syndrome

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Orofaciodigital syndrome type 1

Progressive familial intrahepatic cholestasis type 1

Progressive familial intrahepatic cholestasis type 2

Progressive familial intrahepatic cholestasis type 3

Progressive familial intrahepatic cholestasis type 4

Progressive familial intrahepatic cholestasis type 5

Renal tubulopathy-encephalopathy-liver failure syndrome

Renal-hepatic-pancreatic dysplasia

SLC40A1-related hemochromatosis

Saldino-Mainzer syndrome

Senior-Boichis syndrome

Senior-Loken syndrome

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Symptomatic form of HFE-related hemochromatosis

Synpolydactyly type 3

TFR2-related hemochromatosis

Transaldolase deficiency

Transient familial neonatal hyperbilirubinemia

Turcot syndrome with polyposis

Tyrosinemia type 1

Zellweger syndrome

List of genes tested (including panels) (115)

Quality management

EQA

EQA scheme(s) organized by GenQA

Gastrohepatology disorders

2021

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.