Symptoms of lethargy, coma, hypotonia, seizures, ataxia, vomiting, failure to thrive, metabolic acidosis, etc., may suggest abnormalities of organic acid metabolism. Qualitative and quantitative determination of organic acids is performed by gas chromatography/mass spectrometry. This includes lactic and pyruvic acids.
This test is indicated for:
- Infants with a positive newborn screening result indicative of a metabolic disorder.
- Evaluation of patients with signs of a possible metabolic condition, such as lethargy, vomiting, and failure to thrive.
- Monitoring for individuals diagnosed with a metabolic condition.
Qualitative and quantitative determination performed by gas chromatography/mass spectrometry.
Detection and Reference Range
Test results can be influenced by the age and eating status of the patient. A second test (amino acids analysis/acylcarnitine profile) is typically required to confirm a diagnosis.
Click here for reference range.
Specimen Requirements:In a clean container without preservatives: 2-5 ml. Freeze.
Fasting or first void sample is preferable.
Specimen Collection and Shipping: Ship frozen sample on dry ice with overnight delivery.
Please indicate any medications or dietary changes on the test requisition form.
Amino Acids Quantitative Analysis (AA) and Acylcarnitine Profile (AR) - Plasma are used in the diagnosis and evaluation of patients with metabolic conditions.
How to Order
- Comprehensive Biochemical Genetics Test Requisition Form
- Neurology, Neuromuscular, and Cardiology Test Requisition Form
- Autism/Intellectual Disability/Developmental Delays Test Requisition Form
- Metabolic/Newborn Screening Follow-up Test Requisition Form
- Epilepsy and Related Disorders/Mitochondrial Disorders Test Requisition Form