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Biochemical Genetics

BCGThe Biochemical Genetics Laboratory offers prenatal screening for fetal defects and metabolic testing for inborn errors in metabolism.

  • We provide prenatal testing for Down syndrome, trisomy 18, neural tube defects and ventral wall defects.
  • We provide metabolic testing for a very wide variety of inborn errors in metabolism, such as PKU and MSUD.
  • We are the only lab in the area offering this type of metabolic testing with 24-hour service for metabolic crisis.
  • Monthly population statistics are compiled for the prenatal program to monitor our population medians.
  • We provide rapid turnaround, since samples are collected and processed locally instead of being transported to a reference lab.
  • We have consultants in both prenatal and metabolic testing on site.
  • Our tests include first and second trimester prenatal screening, amino acid analysis (plasma and urine), qualitative organic acid analysis (urine) and dried blood spot analysis for PKU.

Our Team

  • Robert Mooney, Ph.D. works with the physicians in the Maternal Fetal Medicine program.
  • Maternal Fetal Medicine Faculty and Reproductive Genetics Counselor Jeanne Peterson provide consultation on prenatal issues.
  • Dr. Robert Mooney works with Dr. Chin-To Fong, M.D. and nurse practitioners and diet specialists in the Pediatric genetics program for metabolic issues.



  • Two Biochrom 30 Amino Acid Analyzers for amino acid and PKU analysis
  • Gas chromatography-Mass Spectrometry instrument for organic acid analysis
  • Beckman UniCel DxI 600 automated immunoassay analyzer for prenatal analysis


Contact Us

For questions concerning collection, processing and interpretation of results, please contact us at the Biochemical Genetics Laboratory.

  • For metabolic questions: (585) 275-8483
  • For prenatal questions: (585) 275-6260

We are available Monday through Friday, from 8:00 a.m. – 4:30 answer questions. We can also be contacted off hours by calling (585) 275-5991 and asking for the BCG technologist on call.