Biochemical Genetics (Newborn Screening Follow-up) and Special Chemistries Laboratory
(816) 234-3295 or (816) 983-6900
Director: Uttam Garg, PhD, DABCC, FABFT, FAACC
Supervisor: C. Clinton Frazee, III, MBA, NRCC (TC,CC)
Our laboratory utilizes gas chromatography/mass spectrometry (GC/MS) and high performance liquid chromatography/tandem mass spectrometry (LC-MS/MS) for the diagnosis of numerous inherited metabolic disorders, confirmation/follow-up to state newborn positive screen results, various special chemistries testing and therapeutic drug monitoring (TDM), including immunosuppressants testing. The laboratory also provides home blood collection kits for the follow-up and convenience of our PKU patients.
Once all biochemical genetics testing is complete, our hospital’s medical geneticists meet weekly with the laboratory director to assess and interpret the data as part of the ongoing patient care plan. The laboratory is staffed Monday to Friday, 7 a.m. to 5 p.m., but also routinely offers weekend immunosuppressant testing for tacrolimus, sirolimus and cyclosporine.
Test Directory
Use our online Test Directory to find specific information about our testing; including collection details, performing locations, turnaround times and more.
Biochemical genetics/metabolic testing
- Organic acids profile (includes more than 100 organic acids compounds)
- Amino Acid Profile (includes more than 35 amino acids)
- Acylcarnitines profile (includes more than 35 acylcarnitines)
- Total and Free Carnitines
- Phenylalanine (whole blood or dried blood spot)
Special chemistries
- Steroids panel (total testosterone, 17-OH progesterone, DHEA, 11-Deoxycortisol)
- 25-OH Vitamin D2 and D3
- Homovanillic acid (HVA) and Vanillylmandelic acid (VMA)
- Sweat Chlorides (Westcor Macroduct technique)
Therapeutic drug monitoring (TDM)
- Immunosuppressants (sirolimus, tacrolimus, cyclosporine)
- Mycophenolic Acid and MPAG
- Busulfan
- Oxcarbazepine (Trileptal)
- Pentobarbital