Biochemical Genetics Testing



Biochemical Text Index
  Pricing ARUP Client Services
Patient Information Forms
(800) 522-2787
  Clinical Specialist Christa Haslip, BS, MT(ASCP)
Christa Haslip, B.S., MT(ASCP)

Christa Haslip, BS, MT(ASCP), Clinical Specialist
Christa Haslip is the clinical specialist in biochemical genetics at ARUP Laboratories. She is also the liaison between ARUP’s Supplemental Newborn Screening Laboratory and the Utah Department of Health. She received her BS in medical technology from the University of Utah and is certified by the American Society for Clinical Pathology.

(800) 242-2787 x2579
  Medical Director Marzia Pasquali, PhD
Marzia Pasquali, Ph.D.

Marzia Pasquali, PhD,
Co-Medical Director, Biochemical Genetics Laboratory
Chair, Children’s Health Improvement Through Laboratory Diagnostics (CHILDx) Project
Medical Director, Newborn Screening Laboratory

Dr. Pasquali is the co-medical director of the Biochemical Genetics Laboratory, the chair of the CHILDx project, and the medical director of the Newborn Screening Laboratory. She is also an associate professor at the University of Utah School of Medicine and a clinical scientist in the area of newborn screening. Born and educated in Italy, Dr. Pasquali earned her degrees of Doctor in Pharmaceutical Chemistry and Technology and Pharmacy Doctor at the University of Parma School of Pharmacy. Dr. Pasquali trained in biochemical genetics at Emory University and later served as the codirector of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified in Clinical Biochemical Genetics.

(800) 242-2787 x2853
  Co-Medical Director
Marzia Pasquali, Ph.D.

Marzia Pasquali, PhD,
Co-Medical Director, Biochemical Genetics Laboratory
Chair, Children’s Health Improvement Through Laboratory Diagnostics (CHILDx) Project
Medical Director, Newborn Screening Laboratory

Dr. Pasquali is the co-medical director of the Biochemical Genetics Laboratory, the chair of the CHILDx project, and the medical director of the Newborn Screening Laboratory. She is also an associate professor at the University of Utah School of Medicine and a clinical scientist in the area of newborn screening. Born and educated in Italy, Dr. Pasquali earned her degrees of Doctor in Pharmaceutical Chemistry and Technology and Pharmacy Doctor at the University of Parma School of Pharmacy. Dr. Pasquali trained in biochemical genetics at Emory University and later served as the codirector of the Biochemical Genetics Laboratory. Dr. Pasquali is board certified in Clinical Biochemical Genetics.

Nicola Longo, MD
(801) 587-9071
  Assistant Medical Director Patrice K. Held, PhD 800) 242-2787 x2414
     
       
 
A
Acylcarnitine
0040033 Acylcarnitine, Quantitative Profile, Plasma
0081110 Carnitine Panel (Free & Total Carnitine, Acylcarnitine), Plasma or Serum
Acylglycine
0081170 Acylglycine, Quantitative, Urine 
Amino Acids
0080137 Amino Acids Quantitative, CSF
0080710 Amino Acids Quantitative, Plasma
0080044 Amino Acids Quantitative, Urine
B
Biotinidase
0099845 Biotinidase, Serum
C
Carnitine
0080068 Carnitine, Free & Total, Plasma
0081308 Carnitine , Free & Total, Urine
0081110 Carnitine Panel (Free & Total Carnitine, Acylcarnitine), Plasma or Serum
0080065 Carnitine, Free, Plasma
0080067 Carnitine, Total, Plasma
0080512 Carnitine Transport, Fibroblasts
Cystine
0081105 Cystinuria Panel (Arginine, Cystine, Lysine, Ornithine), Urine
0081106 Cystine Quantitative, Urine
E
Ehlers-Danlos Syndrome Type VI (Kyphoscoliotic Form)
0080351 Ehlers-Danlos Syndrome Type VI Screen, Urine
0080342 Pyridinoline & Deoxypyridinoline by HPLC, Urine
G
Galactosemia
0080125 Galactose-1-Phosphate Uridyltransferase, Whole Blood
0051175 Galactosemia Panel (Enzyme & DNA testing for 7 mutations and 2 variants), Whole Blood
0081296 Galactose-1-Phosphate in Red Blood Cells
H
Homocystine
0080413 Homocystine, Quantitative, Urine
Hydroxypoline
0080328 Hydroxyproline, Total, Urine
I
Insulin Binding
0080860 Insulin Binding, Fibroblasts
O
Organic Acids
0098389 Organic Acids, Urine
0099289 Organic Acids, Plasma
Orotic Acid
0092458 Orotic Acid, Urine
P
Phenylalanine
0080336 Phenylalanine & Tyrosine, Plasma (monitoring only)
0080315 Phenylalanine Monitoring, Plasma (monitoring only)
Pyridinoline & Deoxypyridinoline
0080342 Pyridinoline & Deoxypyridinoline by HPLC, Urine
T
Tyrosine
0080355 Tyrosine, Plasma (monitoring only)