Metabolic

metabolic disordersFor metabolic disorders we offer exome sequencing diagnostics and single gene diagnostics.

Below you can find all the metabolic disorders we currently offer. Please click on a disorder for more information about the price and to place your order. You can also visit our ordering site directly.


Exome sequencing diagnostics:
 

Multiple gene diagnostics:
 

Single gene diagnostics:
  Updated 9th of march 2018

 

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

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2-aminoadipic 2-oxoadipic aciduria
2p21 microdeletion syndrome
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylglutaconic aciduria

A

Abetalipoproteinemia
Acute Recurrent Myoglobinuria
Alkaptonuria
Anemia
Aromatic L-amino acid decarboxylase deficiency
Aspartylglycosaminuria

B

Biotinidase deficiency
Butyrylcholinesterase deficiency

C

Carbamoylphosphate synthetase I deficiency
Carnitine deficiency
Carnitine Palmitoyltransferase deficiency
CDG alpha-mannosidase 1b1 deficiency
Cerebral creatine deficiency syndrome
Cholestasis
Combined malonic and methylmalonic aciduria
Congenital disorder of glycosylation
Cutis laxa, autosomal recessive

D

Diabetes mellitus
Dihydrolipoamide dehydrogenase deficiency
Dopamine beta-hydroxylase deficiency
Dystonia, dopamine responsive

E

Enolase deficiency
Epilepsy, pyridoxine-dependent
Extraoral halitosis

F

Fabry disease
Fructose intolerance
Fructose-1,6-bisphosphatase deficiency

G

Galactose epimerase deficiency
Galactosemia
Glyceraldehyde-3-phosphate dehydrogenase deficiency
Glycine N-methyltransferase deficiency
Glycogen storage disease

H

HDL deficiency
Heme oxygenase I deficiency
Hemochromatosis, hereditary
Hemolytic Anemia
Hemostatic/thrombotic disorders (WES)
Homocystinuria
Hyperhomocysteinemia
Hyperoxaluria
Hyperphenylalaninemia
Hyperprolinemia

I

Infantile neuroaxonal dystrophy
Infantile parkinsonism-dystonia
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Intrinsic factor deficiency
Iron disorders (WES)
Isovaleric acidemia

L

Lactase deficiency, congenital
Late-Onset Retinal Degeneration (L-ORD)
Lesch–Nyhan syndrome

M

Malate dehydrogenase deficiency
Maple Syrup Urine Disease
Medium chain Acyl-CoA Dehydrogenase deficiency
Megaloblastic anemia-1
Metabolic disorders (WES)
Methylmalonic aciduria and homocystinuria
Methylmalonic aciduria, vitamin B12 unresponsive
Molybdenum cofactor deficiency
Myasthenic syndrome
Myofosforylase deficiency

N

N-acetylglutamate synthase deficiency
Niemann-Pick disease

O

Ornithine transcarbamylase deficiency
Orotic aciduria

P

Perrault syndrome
Phenylketonuria
Phosphatidylethanolamine N-methyltransferase deficiency
Phosphoglycerate kinase 1 deficiency
Phosphoglycerate mutase 1 deficiency
Propionic acidemia
Pyridoxamine 5'-phosphate oxidase deficiency
Pyruvate kinase deficiency

R

Retinitis Pigmentosa, autosomal recessive

S

Short chain Acyl-CoA dehydrogenase deficiency
Sialidosis
Sitosterolemia
Smith-Lemli-Opitz syndrome
STING-associated vasculopathy, infantile-onset
Succinyl CoA3-oxoacid CoA transferase deficiency

T

Tangier disease
Testis-Derived Transcript
Thiamine metabolism dysfunction syndrome
Trimethylaminuria

V

Very Long-Chain Acyl-CoA Dehydrogenase deficiency