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Diagnosis of rare inborn errors of metabolism (panel)

Laboratorio de Metabolopatias
Servicio de Laboratorios Clínicos
Hospital Universitari Vall d'Hebron
Paseo Vall d'Hebron, 119-129
08035 BARCELONA
SPAIN
Director of laboratory : -
More information

Phone : 34 93 489 42 91
Additional Phone : -
Fax : 34 93 274 68 37
Website

Last update: April 2020

Responsible of diagnostic test

Dr José Antonio ARRANZ AMO

Purpose(s)

Pre-implantation diagnosis

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

Sequence analysis: entire coding region

Sanger sequencing

List of diseases and genes

List of diseases tested (235)

2-methylbutyryl-CoA dehydrogenase deficiency

2p21 microdeletion syndrome

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylglutaconic aciduria type 1

5-oxoprolinase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

Acute intermittent porphyria

Acute neonatal citrullinemia type I

Adenylosuccinate lyase deficiency

Adrenomyeloneuropathy

Adult Krabbe disease

Adult-onset citrullinemia type I

Adult-onset dystonia-parkinsonism

Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase deficiency type 3

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

Aspartylglucosaminuria

Atypical Gaucher disease due to saposin C deficiency

Atypical hypotonia-cystinuria syndrome

Autosomal dominant dopa-responsive dystonia

Autosomal erythropoietic protoporphyria

Autosomal recessive dopa-responsive dystonia

Beta-ketothiolase deficiency

Beta-mannosidosis

Biotinidase deficiency

Brain demyelination due to methionine adenosyltransferase 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

Cholesteryl ester storage disease

Citrullinemia type II

Classic glucose transporter type 1 deficiency syndrome

Classic homocystinuria

Classic maple syrup urine disease

Classic phenylketonuria

Congenital brain dysgenesis due to glutamine synthetase deficiency

Congenital intrinsic factor deficiency

Cystinuria type A

Cystinuria type B

Dihydropteridine reductase deficiency

Dihydropyrimidine dehydrogenase deficiency

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Encephalopathy due to prosaposin deficiency

Erythrocyte galactose epimerase deficiency

Ethylmalonic encephalopathy

Familial porphyria cutanea tarda

Fanconi-Bickel syndrome

Fatal infantile lactic acidosis with methylmalonic aciduria

Fetal Gaucher disease

GM1 gangliosidosis type 1

GM1 gangliosidosis type 2

GM1 gangliosidosis type 3

Galactosialidosis

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Generalized galactose epimerase deficiency

Genetic recurrent myoglobinuria

Glutaryl-CoA dehydrogenase deficiency

Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, juvenile form

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 glucose-6-phosphatase deficiency type Ib

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, non 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

Glycogen storage disease due to muscle phosphofructokinase deficiency

Gyrate atrophy of choroid and retina

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hepatoerythropoietic porphyria

Hereditary fructose intolerance

Hereditary hyperekplexia

Hereditary orotic aciduria

Holocarboxylase synthetase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Hurler syndrome

Hurler-Scheie syndrome

Hyperammonemia due to N-acetylglutamate synthase deficiency

Hyperimmunoglobulinemia D with periodic fever

Hyperinsulinism-hyperammonemia syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperphenylalaninemia due to DNAJC12 deficiency

Hyperprolinemia type 1

Hyperprolinemia type 2

Hypotonia-cystinuria syndrome

Imerslund-Gräsbeck syndrome

Infantile Krabbe disease

Infantile Refsum disease

Infantile neuroaxonal dystrophy

Infantile neurovisceral acid sphingomyelinase deficiency

Intermediate maple syrup urine disease

Intermittent maple syrup urine disease

Isolated sulfite oxidase deficiency

Isovaleric acidemia

Juvenile sialidosis type 2

L-2-hydroxyglutaric aciduria

Late-infantile/juvenile Krabbe disease

Leigh syndrome with leukodystrophy

Lesch-Nyhan syndrome

Lipoic acid synthetase deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Lysinuric protein intolerance

Malonic aciduria

Maternal phenylketonuria

Maternal riboflavin deficiency

Medium chain acyl-CoA dehydrogenase deficiency

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Methylcobalamin deficiency type cblDv1

Methylcobalamin deficiency type cblE

Methylcobalamin deficiency type cblG

Methylmalonic acidemia with homocystinuria type cblF

Methylmalonic acidemia with homocystinuria, type cblC

Methylmalonic acidemia with homocystinuria, type cblD

Methylmalonic acidemia with homocystinuria, type cblJ

Methylmalonic acidemia with homocystinuria, type cblX

Mild hyperphenylalaninemia

Mild phenylketonuria

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial trifunctional protein deficiency

Mucolipidosis type II

Mucolipidosis type III alpha/beta

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 4B

Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Mucopolysaccharidosis type 7

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Multiple mitochondrial dysfunctions syndrome type 1

Multiple mitochondrial dysfunctions syndrome type 2

Neonatal adrenoleukodystrophy

Neonatal glycine encephalopathy

Neonatal intrahepatic cholestasis due to citrin deficiency

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

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

Niemann-Pick disease type C, severe perinatal form

Occipital horn syndrome

Ornithine transcarbamylase deficiency

Oxoglutaric aciduria

Phosphoenolpyruvate carboxykinase deficiency

Porphyria due to ALA dehydratase deficiency

Primary hyperoxaluria type 1

Prolidase deficiency

Propionic acidemia

Pterin-4 alpha-carbinolamine dehydratase deficiency

Purine nucleoside phosphorylase deficiency

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3 deficiency

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

Rhizomelic chondrodysplasia punctata type 5

Saccharopinuria

Sandhoff disease, adult form

Sandhoff disease, infantile form

Sandhoff disease, juvenile form

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type D

Scheie syndrome

Severe primary trimethylaminuria

Short chain acyl-CoA dehydrogenase deficiency

Sialidosis type 1

Smith-Lemli-Opitz syndrome

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Systemic primary carnitine deficiency

Tay-Sachs disease, B variant, adult form

Tay-Sachs disease, B variant, infantile form

Tay-Sachs disease, B variant, juvenile form

Tay-Sachs disease, B1 variant

Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Thiamine-responsive maple syrup urine disease

Transcobalamin deficiency

Tyrosinemia type 1

Tyrosinemia type 2

Tyrosinemia type 3

Very long chain acyl-CoA dehydrogenase deficiency

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

X-linked cerebral adrenoleukodystrophy

X-linked creatine transporter deficiency

X-linked dominant chondrodysplasia punctata

X-linked erythropoietic protoporphyria

X-linked sideroblastic anemia

Zellweger syndrome

List of genes tested (including panels) (225)

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