Orphanet: Molecular diagnosis of Metabolic Neurodegenerative Disorders multigene panel 60 genes
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Molecular diagnosis of Metabolic Neurodegenerative Disorders (multigene panel; 60 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 26/03/2013
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Last update: March 2013

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (45)
6-pyruvoyl-tetrahydropterin synthase deficiency
Adenylosuccinate lyase deficiency
Alpha-mannosidosis
Argininemia
Argininosuccinic aciduria
Aromatic L-amino acid decarboxylase deficiency
Carbamoyl-phosphate synthetase 1 deficiency
Cerebrotendinous xanthomatosis
Citrullinemia type I
Classic glucose transporter type 1 deficiency syndrome
Classic homocystinuria
Coenzyme Q10 deficiency
Dihydropteridine reductase deficiency
Disorder of neutral amino acid transport
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GTP cyclohydrolase I deficiency
Glutaryl-CoA dehydrogenase deficiency
Guanidinoacetate methyltransferase deficiency
Holocarboxylase synthetase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Isovaleric acidemia
L-Arginine:glycine amidinotransferase deficiency
Malonic aciduria
Maple syrup urine disease
Metachromatic leukodystrophy
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonic acidemia with homocystinuria
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 2
Mucopolysaccharidosis type 3
Niemann-Pick disease type C
Ornithine transcarbamylase deficiency
Propionic acidemia
Pterin-4 alpha-carbinolamine dehydratase deficiency
Purine nucleoside phosphorylase deficiency
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-unresponsive methylmalonic acidemia
X-linked adrenoleukodystrophy
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