Organic Acids, Comprehensive, Quantitative, Urine
- $598
The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.
2-DECENEDIOIC ACID
2-ETHYL-3OH-PROPIONIC
2-METHYLACETOACETIC ACID
2-METHYLBUTYRYLGLYCINE
2-METHYLGLUTACONIC ACID
2-OCTENEDIOIC ACID
2-OCTENOIC ACID
2-OXO-3-METHYVALERIC ACID
2-OXO-ADIPIC ACID
2-OXO-BUTYRIC ACID
2-OXO-GLUTARIC ACID
2-OXO-ISOCAPROIC ACID
2-OXO-ISOVALERIC ACID
2OH-3-METHYLVALERIC ACID
2OH-ADIPIC ACID
2OH-BUTYRIC ACID
2OH-GLUTARIC ACID
2OH-ISOCAPROIC ACID
2OH-ISOVALERIC ACID
2OH-PHENYLACETIC ACID
3-METHYLCROTONYLGLYCINE
3-METHYLGLUTACONIC ACID
3-METHYLGLUTARIC ACID
3OH-2-METHYLBUTYRIC ACID
3OH-2-METHYLVALERIC ACID
3OH-3-METHYLGLUTARIC ACID
3OH-ADIPIC ACID
3OH-BUTYRIC ACID
3OH-DODECANEDIOIC ACID
3OH-DODECANOIC ACID
3OH-GLUTARIC ACID
3OH-ISOBUTYRIC ACID
3OH-ISOVALERIC ACID
3OH-PROPIONIC ACID
3OH-SEBACIC ACID
3OH-VALERIC ACID
4OH-BUTYRIC ACID
4OH-CYCLOHEXYLACETIC ACID
4OH-PHENYLACETIC ACID
4OH-PHENYLLACTIC ACID
4OH-PHENYLPYRUVIC ACID
4OH-PHEYLPROPIONIC ACID
5-HIAA
5-OXO-PROLINE
5OH-HEXANOIC ACID
ACETOACETIC ACID
ACONITIC ACID
ADIPIC ACID
BUTYRYLGLYCINE
CITRIC ACID
Creatinine, Random Urine
CROTONYLGLYCINE
DECADIENEOIC ACID
DODECANEDIOIC ACID
ETHYLMALONIC ACID
FUMARIC ACID
GLUTACONIC ACID
GLUTARIC ACID
GLYCERIC ACID
HEXANOYLGLYCINE
HOMOGENTISIC ACID
HOMOVANILLIC ACID
INTERPRETATION
ISOBUTYRYLGLYCINE
ISOCITRIC ACID
ISOVALERYLGLYCINE
LACTIC ACID
MALIC ACID
MALONIC ACID
METHYLCITRIC ACID
METHYLMALONIC ACID
METHYLSUCCINIC ACID
MEVALONOLACTONE
N-ACETYLASPARTIC ACID
N-ACETYLTYROSINE
N-VALERYLGLYCINE
OCTANOIC ACID
OROTIC ACID
PHENYLACETIC ACID
PHENYLLACTIC ACID
PHENYLPROPIONYLGLYCINE
PHENYLPYRUVIC ACID
PROPIONYLGLYCINE
PYRUVIC ACID
SEBACIC ACID
SUBERIC ACID
SUBERYLGLYCINE
SUCCINIC ACID
SUCCINYLACETONE
THYMINE
TIGLYLGLYCINE
TRANS-CINNAMYLGLYCINE
URACIL
VMA
The Organic Acids, Comprehensive, Quantitative, Urine test contains 1 test with 94 biomarkers .
This test is intended for the diagnosis and monitoring of inherited disorders affecting multiple metabolic pathways.
Organic acidurias are inherited disorders resulting from a deficient enzyme or transport protein. Although most are autosomal recessive disorders, several are X-linked. The more than 60 described organic acidurias affect many metabolic pathways including amino acid metabolism, lipid metabolism, purine and pyrimidine metabolism, the urea cycle, the Krebs cycle and fatty acid oxidation. These disorders are characterized by a wide variety of symptoms such as lethargy, coma, hypotonia, seizures, ataxia, vomiting, failure to thrive, developmental delay, liver disease, neutropenia, thrombocytopenia, osteomalacia and osteoporosis. Severity of presentation is highly variable as is age of onset, and patients may not present with the most characteristic features. Laboratory results commonly indicate metabolic acidosis, increased anion gap, hyperammonemia, hypoglycemia, lactic acidemia, ketosis, or abnormal lipid patterns. Treatment may be based on dietary restrictions and/or supplementation with cofactors (e.g., riboflavin or cobalamin) or conjugating agents (e.g., carnitine or sodium benzoate); however, there is no effective therapy for some of the disorders.
Elevation of one or more organic acids is diagnostic for an organic aciduria; however, elevations should be interpreted in context with clinical findings and/or additional test results. See additional information for a table of selected organic acidurias and associated organic acid elevations. Since many organic acidurias are episodic, the diagnostic efficacy is maximized when the patient is expressing symptoms at the time of specimen collection.
The test will be capable of diagnosing over 30 inherited metabolic defects, and will also allow physicians to determine dietary compliance or the effectiveness of dietary/cofactor therapy for their patients. It can also be used, alone or in conjunction with other tests, to confirm the findings of a positive expanded newborn screen.