Organic acid disorders
Data-supported, differentiated testing
Symptoms due to organic acid metabolism disorders can quickly worsen and even lead to death without proper care and treatment. Because treatment is effective for the most common organic acidemias, early, accurate diagnosis is critical to prevent symptoms from worsening.
Our testing for organic acid metabolism includes biochemical and molecular assays for methylmalonic acidemias (cobalamin disorders), propionic acidemia, and glutaric acidemia. We are the one of the only laboratories in the world to offer chiral analysis of the urine to determine the type of 2-hydroxyglutaric aciduria. In addition, molecular genetic testing for all of the organic acid and fatty acid metabolism testing presented here, and many others not included in preexisting panels, is available through our custom gene ordering tool.
General screening
Biochemical testing
- AAQP | Amino Acids, Quantitative, Plasma
- AAPD | Amino Acids, Quantitative, Random, Urine
- AACSF | Amino Acids, Quantitative, Spinal Fluid
- ACRN | Acylcarnitines, Quantitative, Plasma
- AGU20 | Acylglycines, Quantitative, Random, Urine
- OAU | Organic Acids Screen, Random, Urine
- TRYPP | Tryptophan, Plasma
- TRYPU | Tryptophan, Random, Urine
2-hydroxyglutaric aciduria
Biochemical testing
Molecular testing
3-methylglutaconic aciduria
Biochemical testing
Molecular testing
Biotinidase deficiency
Biochemical testing
Molecular testing
Glutaric acidemia type I
Biochemical testing
- C5DCU | C5-DC Acylcarnitine, Quantitative, Random, Urine
- HGEM | Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Blood Spot
- HGEMP | Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Plasma
- HGEMS | Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Serum
Molecular testing
Methylmalonic acidemia/Cobalamin/ Propionic acidemia
Biochemical testing
- CMMPP | Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
- CMMPS | Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum
Molecular testing
- MMAGP | Methylmalonic Aciduria Gene Panel, Varies
- MPAGP | Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
Custom gene ordering
Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the inborn errors of metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.
Key testing