The 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, amniotic fluid testing for follow up, amino acid analysis (plasma and urine), qualitative organic acid analysis (urine) and dried blood spot analysis for PKU.
- Robert Mooney, Ph.D. works with the physicians in the Maternal Fetal Medicine program.
- Monique Ho, M.D., Eva Pressman, M.D. and Reproductive Genetics Counselor Jeanne Peterson provides consultation on prenatal issues.
- Dr. Robert Mooney works with Dr. Chin-To Fong, M.D., Jennifer Kwon, M.D., M.P.H., Dr. Naomi Yachelevich, M.D. and nurse practitioners and diet specialists in the Pediatric genetics program for metabolic issues.
- Biochrom 30 Amino Acid Analyser for amino acid and PKU analysis
- GCMS for organic acid analysis
- Beckman Access 2 for prenatal analysis
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 p.m.to answer questions. We can also be contacted off hours by calling (585) 275-5991 and asking for the BCG technologist on call.