UT Genetics Center

Genetic Testing Laboratories

Biochemical Diagnostic Laboratory

Inborn errors of metabolism. Assessment for inborn errors of metabolism includes analysis of amino acid levels in serum and urine, organic acids in urine, urinary mucopolysaccharides and chloride levels in sweat. A board certified biochemical geneticist provides interpretations and suggestions for follow-up testing.
Second trimester maternal serum screening program. Second trimester maternal serum screening for identification of pregnancies at increased risk for Down syndrome (Trisomy 21), neural tube defects and Trisomy 18.

Analysis of AFP, hCG, unconjugated estriol and Inhibin A in serum from pregnant women between 15 and 21 weeks gestation. A board certified biochemical geneticist provides interpretation of these results for the identification of pregnancies at increased risk for Trisomy 21, open neural tube defects and Trisomy 18. Amniotic fluid AFP and acetyl cholinesterase analyses also are provided as appropriate.