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Diagnosis of hepatic diseases (Panel)

Laboratoire de Biochimie et de Biologie moléculaire
CHU de Nancy - Hôpitaux de Brabois
Rue du Morvan
54511 VANDOEUVRE-LÈS-NANCY CEDEX
FRANCE
Director of laboratory : Pr Jean-Louis GUEANT
More information

Phone : 33 (0)3 83 15 44 84
Additional Phone : -
Fax : 33 (0)3 83 15 37 85
Website
Contact
email

Last update: February 2020

Responsible of diagnostic test

Pr Jean-Louis GUEANT

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (36)

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alpha-1-antitrypsin deficiency

Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 2

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

Erythrocyte galactose epimerase deficiency

Familial hypercholanemia

Generalized galactose epimerase deficiency

Hemochromatosis type 2

Hemochromatosis type 3

Hemochromatosis type 4

Hemochromatosis type 5

Hereditary fructose intolerance

Infantile Refsum disease

Isolated polycystic liver disease

Low phospholipid-associated cholelithiasis

Neonatal adrenoleukodystrophy

Neonatal ichthyosis-sclerosing cholangitis syndrome

Progressive familial intrahepatic cholestasis type 1

Progressive familial intrahepatic cholestasis type 2

Progressive familial intrahepatic cholestasis type 3

Rotor syndrome

Transient familial neonatal hyperbilirubinemia

Tyrosinemia type 1

Wilson disease

Zellweger syndrome

List of genes tested (including panels) (70)

ENG

F12

FAH

FGA

FGB

FGG

HJV

HPD

HRG

TAT

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