Reference |
Disease |
|---|---|
| SEQ1231 | Glutaric acidemia |
| SEQ1252 | Methylmalonic acidemia |
| SEQ1271 | Propionic acidemia |
| SEQ1315 | Acidemia/Organic Aciduria and Cobalamin deficiency |
| EXN1125/SEQ1325 | Changes in folate and homocysteine metabolism |
| EXN1010 | Mitochondrial disorders secondary to mutations in the nuclear DNA |
| SEQ2885 | Cystinuria |
| SEQ2891 | Citrullinemia |
| EXN1134/SEQ1326 | Sulfite oxidase, molybdenum and xanthine deficiency |
| SEQ3681 | Carnitine palmitoyltransferase deficiency |
| SEQ1376 | Coenzyme Q10 deficiency |
| EXN1066/SEQ1377 | Dystroglycanopathies |
| EXN1159/SEQ1378 | Maple syrup urine disease |
| EXN1058 | Lysosomal and Peroxisomal Diseases |
| EXN1100/SEQ1379 | Glycogen metabolism disorder diseases |
| EXN1071/SEQ1380 | Metabolism errors with hyperammonemia |
| SEQ6022 | Hyperphenylalaninemia due to BH4 deficiency |
| EXN1136/SEQ4981 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| EXN1118/SEQ6931 | Lipodystrophies |
| SEQ6952 | Neuronal ceroid lipofuscinosis |
| SEQ1382 | Metabolic myopathies and Rhabdomyolysis |
| SEQ7241 | Mucopolysaccharidosis |
| EXN1073/SEQ1383 | Neuroacanthocytosis, Wilson's Disease, and Hemochromatosis |
| SEQ8132 | Familial Hypokalemic Periodic Paralysis |
| EXN1146/SEQ1384 | Porphyria |
| SEQ1385 | Fatty Acid Oxidation Syndrome |
| SEQ1386 | Tyrosinemia |
| EXN1129/SEQ1387 | Congenital disorders of glycosylation |
| SEQ references correspond to studies performed using NIMSeq® | |
| EXN references correspond to studies performed using ExoNIM® | |
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