Director: Tina Cowan, Ph.D.
General Information
Metabolic diseases encompass defects in the biochemical pathways of amino acids, organic acids, fatty acids and carbohydrates. Inherited metabolic disorders are individually rare but collectively relatively common. The diagnosis of an inborn error of metabolism can be hindered by the fact that symptoms can be nonspecific and compatible with a variety of non-genetic conditions. In neonates and infants, the presentation often resembles overwhelming septicemia, including metabolic acidosis, vomiting, lethargy and seizures. In older children and even adults, these diseases may manifest as unexplained mental retardation, progressive neurologic abnormalities, muscle weakness, or other systemic findings. Many metabolic disorders are treatable by special diets or other interventions, which are ideally implemented as early in life as possible. The key to optimal outcome is therefore a timely and precise diagnosis, which can only be established by specific laboratory tests.
TESTS:
Select a Test to view Test Description &
Clinical Indications |
TEST CODES:
Select a Test Code to view Test Specimen Collection Instructions |
| Acylcarnitine Profile, Quantitative |
ACYLP |
| Amino Acids, Quantitative, CSF |
AACSF |
| Amino Acids, Quantitative, Plasma |
AAP |
| Amino Acids, Quantitative, Urine |
AAUR |
| Biotinidase |
BTDASE |
| Branched Chain Amino Acids |
BCAA |
| Carnitine, Free and Total, Plasma/Serum |
CARN |
| Carnitine, Free and Total, Urine |
UCARN |
| Methylmalonic Acid, Serum |
MMAS |
| Mucopolysaccharides, Urine, Quantitative |
MPSQNT |
| Mucopolysaccharides, TLC, Urine |
MPSTLC |
| Oligosaccharides, TLC, Urine |
OSTLC |
| Organic Acids, Qualitative, Urine |
UORG |
| Orotic Acid, Urine |
UOROT |
| Phenylalanine and Tyrosine |
PHATYR |
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Hours
Specimens are accepted 24 hours a day, seven days a week, except as noted in test specimen requirements.
Consultation Services
We provide a full range of Biochemical Genetics testing services for both pediatric and adult samples. Results are fully interpreted by an American Board of Medical Genetics-certified biochemical geneticist. For consultation services please call Customer Services AT 1-877-717-3733 and request the Biochemical Genetics Laboratory. |
