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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.

TO SEND A SPECIMEN FOR CONSULTATION

TESTS: Select a test to view Test Description & Clinical IndicationsTEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
ACYLCARNITINE PROFILE, QUANTITATIVEACYLP
AMINO ACIDS, BLOOD SPOTAABS
AMINO ACIDS, QUANTITATIVE, CSFAACSF
AMINO ACIDS, QUANTITATIVE, PLASMAAAP
AMINO ACIDS, QUANTITATIVE, URINEAAUR
BIOTINIDASEBTDASE
BRANCHED CHAIN AMINO ACIDSBCAA
CARNITINE, FREE AND TOTAL, PLASMA/SERUMCARN
CARNITINE, FREE AND TOTAL, URINEUCARN
METHYLMALONIC ACID, SERUMMMAS
MUCOPOLYSACCHARIDES, TLC, URINEMPSTLC
MUCOPOLYSACCHARIDES, URINE, QUANTITATIVEMPSQNT
OLIGOSACCHARIDES, TLC, URINEOSTLC
ORGANIC ACIDS, QUALITATIVE, URINEUORG
OROTIC ACID, URINEUOROT
PHENYLALANINE AND TYROSINEPHATYR

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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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