Orphanet: Diagnostic des dï¿½ï¿½ï¿½ficits mï¿½ï¿½ï¿½taboliques et insuffisances hï¿½ï¿½ï¿½patiques Panel

x

Share
Share

Search for a diagnostic test

Diagnosis of inborn errors of metabolism and liver failure (Panel)

Service de Génétique Moléculaire
Hôpital Necker-Enfants Malades
149 rue de Sèvres
75743 PARIS
FRANCE
Director of laboratory : Pr Julie STEFFANN
More information

Phone : 33 (0)1 44 49 51 64
Additional Phone : 33 (0)1 44 38 15 07
Fax : 33 (0)1 71 19 64 20
Website

Last update: June 2022

Responsible of diagnostic test

Dr Stéphanie GOBIN

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Targeted mutation analysis

Sanger sequencing

Targeted mutation analysis

NGS sequencing (except WES)

Mutation scanning/screening and sequence analysis of selected exons

Sanger sequencing

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

MLPA based techniques

List of diseases and genes

List of diseases tested (129)

2-aminoadipic 2-oxoadipic aciduria

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

Acute neonatal citrullinemia type I

Acyl-CoA dehydrogenase 9 deficiency

Adenosine monophosphate deaminase deficiency

Adult polyglucosan body disease

Adult-onset autosomal recessive sideroblastic anemia

Amish lethal microcephaly

Argininosuccinic aciduria

Atypical glycine encephalopathy

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Beta-ketothiolase deficiency

Bifunctional enzyme deficiency

Biotin-thiamine-responsive basal ganglia disease

Biotinidase deficiency

Carbamoyl-phosphate synthetase 1 deficiency

Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

Carnitine palmitoyl transferase II deficiency, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

Carnitine-acylcarnitine translocase deficiency

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood-onset spasticity with hyperglycinemia

Citrullinemia type II

Class I glucose-6-phosphate dehydrogenase deficiency

Classic galactosemia

Classic maple syrup urine disease

Combined malonic and methylmalonic acidemia

Erythrocyte galactose epimerase deficiency

Ethylmalonic encephalopathy

Exercise-induced hyperinsulinism

Fever-associated acute infantile liver failure syndrome

Generalized galactose epimerase deficiency

Genetic recurrent myoglobinuria

Glutaryl-CoA dehydrogenase deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

Glycogen storage disease due to aldolase A 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 lactate dehydrogenase M-subunit 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

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Glycogen storage disease due to muscle beta-enolase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

Gyrate atrophy of choroid and retina

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Hereditary orotic aciduria

Holocarboxylase synthetase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Infantile glycine encephalopathy

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Intermediate maple syrup urine disease

Intermittent maple syrup urine disease

Isolated complex I deficiency

Isovaleric acidemia

Ketoacidosis due to monocarboxylate transporter-1 deficiency

Late-onset citrullinemia type I

Lipoic acid synthetase deficiency

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Lysinuric protein intolerance

Malonic aciduria

Maternal riboflavin deficiency

Medium chain acyl-CoA dehydrogenase deficiency

Mitochondrial pyruvate carrier deficiency

Mitochondrial trifunctional protein deficiency

Multiple acyl-CoA dehydrogenase deficiency, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Multiple mitochondrial dysfunctions syndrome type 1

Multiple mitochondrial dysfunctions syndrome type 2

Multiple mitochondrial dysfunctions syndrome type 3

NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency

Neonatal glycine encephalopathy

Neonatal intrahepatic cholestasis due to citrin deficiency

Ornithine transcarbamylase deficiency

Oxoglutaric aciduria

Phosphoenolpyruvate carboxykinase deficiency

Progressive polyneuropathy with bilateral striatal necrosis

Propionic acidemia

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase phosphatase deficiency

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Riboflavin transporter deficiency

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Severe primary trimethylaminuria

Short chain acyl-CoA dehydrogenase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Systemic primary carnitine deficiency

Thiamine-responsive encephalopathy

Thiamine-responsive maple syrup urine disease

Thiamine-responsive megaloblastic anemia syndrome

Transaldolase deficiency

Tyrosinemia type 1

Very long chain acyl-CoA dehydrogenase deficiency

List of genes tested (including panels) (141)

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.