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Biochemical Genetics

Section Director: Tina Cowan, Ph.D.
Operations Director: Cynthia Samson, MA, MT(ASCP) SH, CLS

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.

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TESTS:
Select a test to view Test Description & Clinical Indications
TEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
ACYLCARNITINE PROFILE, QUANTITATIVEACYLP
AMINO ACIDS, BLOOD SPOT AABS
AMINO ACIDS, QUANTITATIVE, CSF AACSF
AMINO ACIDS, QUANTITATIVE, PLASMA AAP
AMINO ACIDS, QUANTITATIVE, URINE AAUR
BIOTINIDASE BTDASE
CARNITINE, FREE AND TOTAL, PLASMA/SERUM CARN
CARNITINE, FREE AND TOTAL, URINE UCARN
GLUTATHIONE, WHOLE BLOOD LAB274
METHYLMALONIC ACID, SERUM MMAS
MUCOPOLYSACCHARIDES, TLC, URINE MPSTLC
MUCOPOLYSACCHARIDES, URINE, QUANTITATIVE MPSQNT
OLIGOSACCHARIDES, QUALITATIVE BY MASS SPECTROMETRY, URINE OSLCMS
ORGANIC ACIDS, QUALITATIVE, URINE UORG
OROTIC ACID, URINE UOROT

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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.

 
 


 
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