More Information About the Metabolic Tests We Offer
Fanconi Syndrome Testing*: Only urine samples are needed for this test, which examines whether there are excessive amounts of amino acids, carbohydrates (glucose specifically), lactic acid, and cystine in the urine.
* Fanconi Syndrome Testing: FS may be primary (inherited) or secondary (acquired). We have associated the presence of Fanconi Syndrome with the ingestion of pet jerky treats, particularly in small breed dogs. The FDA is investigating this matter. Please provide the product name/information and lot number of treats to the FDA, if being fed. See: https://www.fda.gov/animal-veterinary/outbreaks-and-advisories/fda-investigates-animal-illnesses-linked-jerky-pet-treats
MMA Testing: The methylmalonic acid test examines the patient’s urine for possible B12 deficiency. It is very important that the urine is obtained before the patient receives parenteral cobalamin, which would correct the biochemical abnormalities within days.
MPS Spot Testing: This test looks for abnormal amounts of unspecific glycosaminoglycans in the urine, which may indicate the presence of mucopolysaccharidosis (MPS) in a patient. Only urine is needed for this test and please include clinical information. If there is a high suspicion of an MPS or another storage disorder present in a patient and/or a diagnosis of a specific enzyme deficiency is desired, we would recommend choosing a Metabolic Screening/Storage Disorder Test.
Metabolic Screening/Storage Disorder Testing: This test examines abnormal metabolites in the urine. To obtain the most information from this test we recommend that the urine sample be accompanied by an EDTA blood and a serum sample and, very important, the patient’s clinical information. Ideally, a serum sample from a normal same-species animal should also be submitted to account for any enzyme degradation during transport, that would be used for further specialized enzyme testing (separate test, see below).
Specialized Enzymes Testing: These tests are done by appointment only, so please contact us before submitting samples. We are testing for the activity of a number of specific enzymes that have been implicated in various storage diseases, such as MPS I, VI, VII, GM1- and GM2-gangliosidosis, alpha- and beta-mannosidosis, and alpha-fucosidase. You would need to submit EDTA blood and a serum sample from the patient and a serum sample from a clinically normal same-species animal to account for any enzyme degradation during transport, unless previously submitted with a Metabolic Screening test.
Nitroprusside/Cystinuria Testing: We are testing for the presence of cystine in the urine though a semi-quantitative test. At this time we are not able to provide you with the exact concentration in numbers. Results will be given in positive, slightly positive, or negative.
Methemoglobin/Cytochrome B5 Reductase Enzyme Deficiency Testing: This test is done by appointment only, as the samples have to be processed immediately, so please contact us before submitting samples. This test evaluates the activity/deficiency of Cytochrome B5 reductase enzyme in the patient. The samples needed are EDTA blood from the patient as well as EDTA blood from a clinically normal same-species animal to account for any enzyme degradation during transport.