Biochemical Genetics Laboratory
The Nationwide Children’s Hospital Biochemical Genetics Laboratory is comprised of a team of highly skilled academic clinical scientists and laboratory personnel who provide esoteric testing for the diagnosis and monitoring of complex genetic disorders. The laboratory focuses on the validation and implementation of new biochemical genetics testing through robust research and development.
The Biochemical Genetics Laboratory works in conjunction with the Genetics department for interpretation of the biochemical markers to give a comprehensive report. Our testing covers multiple amino, fatty and organic acid disorders as well as congenital adrenal hyperplasia and psychosine, a marker of Krabbe disease.
The laboratory has an ambitious program of test development, validation and implementation to support clinical practices, internally and externally, for excellence in delivery of care for patients with genetic diseases.
The Biochemical Genetics Laboratory at Nationwide Children’s provides a range of whole blood, plasma, urine and cerebrospinal fluid (CSF) testing, focusing on early childhood diseases of a genetic nature. These testing services can help identify early childhood diseases with biochemical markers.
Biochemical Genetics testing covers most early genetic diseases with chemical markers. This testing includes:
- Psychosine (Krabbe disease)
- Amino, fatty and organic acid
- Total and free carnitine
- Acylcarnitine
- Steroid hormones
- Homovanillic (HVA) and vanillylmandelic acid (VMA)
- Methylmalonic acid (MMA)
Assay types offered at the Biochemical Genetics Laboratory include:
- Flow injection mass spectrometry (FI-MS)
- Liquid chromatography tandem mass spectrometry (LC-MS/MS)
- Gas chromatography mass spectrometry (GC-MS)
- High pressure liquid chromatography (HPLC)
The Nationwide Children’s Biochemical Genetics Laboratory also offers filter paper, or blood spot, testing. This allows for more convenient, broader access to testing for patients in the area, as they do not have to come to the hospital for a blood draw. Instead, supplies can be given or sent to the patient so they can take a sample from home using a finger stick and paper, which is then sent to the laboratory for testing.
The Biochemical Genetics Laboratory is also working to expand its steroid hormone testing, which it currently offers in collaboration with Endocrinology.
The mission of the Biochemical Genetics Laboratory is to provide phenotypic analysis of genetic diseases and clinical consultative services for the diagnosis and treatment of genetic disorders, including amino, fatty and organic acid disorders, collectively referred to as inborn errors of metabolism.
The Biochemical Genetics Laboratory supports numerous clinical practices and areas at Nationwide Children’s. However, the laboratory works directly with the Genetics Department, where Kim L. McBride, MD, MS, and Dennis W. Bartholomew, MD, provide interpretations and sign outs for biochemical genetics testing.
The Biochemical Genetics Laboratory is active in the education of fellows and residents and offers a variety of training opportunities in the laboratory for those interested in a career in clinical biochemical genetics, in addition to providing educational information to clinical groups on the biochemical genetics testing repertoire.
For the Biochemical Genetics Clinical Data Form click here
If you would like to learn more information about Biochemical Genetics at Nationwide Children’s Hospital, or want to discuss specific biochemical testing, please contact Laboratory Services at (877) 934-6575 or email Dustin Bunch, PhD, DABCC, at Dustin.Bunch@NationwideChildrens.org.