Biochemical Genetics Testing



Biochemical Text Index
 
  Pricing ARUP Client Services (800) 522-2787
  Clinical Specialist Christa Haslip, 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 Nicola Longo, MD

LongoNicola Longo, MD, PhD
Co-Medical Director, Biochemical Genetics Laboratory
Dr. Longo is the co-medical director of the Biochemical Genetics Laboratory at ARUP and a professor of pediatrics and an associate professor of pathology at the University of Utah. Dr. Longo received his MD and PhD in molecular biology and pathology from the University of Parma Medical School in Italy and trained in medical and biochemical genetics at Emory University in Atlanta, Georgia. Dr. Longo is board certified in medical genetics and clinical biochemical genetics.

  Assistant Medical Director Patrice K. Held, PhD (800) 242-2787, x2414
  Genetic Counselor Amanda Openshaw,
MS, LCGC

Amanda Openshaw, M.S., L.G.C., Genetic Counselor

Amanda Openshaw, MS, LGC, Genetic Counselor
Amanda Openshaw is a genetic counselor with ARUP’s Biochemical Genetics Department. She is board certified by the American Board of Genetic Counseling, licensed by the state of Utah, and a member of the National Society of Genetic Counselors. Ms. Openshaw received her MS in genetic counseling from the University of Michigan.

(800) 242-2787, x3921
     
       
 
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
0093362 Biotinidase, Serum (with paired normal control)
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
Creatine
  • ARUP Technical Bulletins
2002333 Creatine Disorders Panel, Urine
2002328 Creatine Disorders Panel, Plasma or Serum
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
Glutarylcarnitine
2001510 Glutarylcarnitine, Quantitative, Urine
H
Homocystine
0080413 Homocystine, Quantitative, Urine
Hydroxypoline
0080328 Hydroxyproline, Total, Urine
I
Insulin Binding
0080860 Insulin Binding, Fibroblasts
M
Mucopolysaccharidoses (MPS)
0081352 Mucopolysaccharides Electrophoresis & Quantitation, Urine
0081357 Mucopolysaccharides, Quantitative, Urine
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)

 

 
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