Arizona Newborn Screening Program Personnel
Laboratory Contact:
Wendy Zakowitz
Arizona Department of Health Services Laboratory
1520 West Adams
Phoenix, AZ 85007
(602) 5421184; FAX (602) 5420760
General
Jan Kerrigan, RN, Newborn Screening Program Manager
Wendie Jenkins, Followup Coordinator
John McElligott, Education and Quality Manager
Arizona Department of Health Services
Office of Women's and Children's Health
150 N. 18th Avenue, Suite 320
Phoenix, AZ 85007
(602) 364-1409; FAX (602) 364-1495
Medical Consultants:
Endocrine
Roger Johnsonbaugh, MD
Arizona Pediatric Endocrinology
3411 N. 5th Ave., Ste. 201
Phoenix, AZ 85013
(602) 2745078; FAX (602) 2850378
Khalid Hasan, MD
Sylvia Kaufmann, MD
Phoenix Children's Hospital
Pediatric Endocrinology Section
909 E. Brill Street
Phoenix, AZ 85006
(602) 546-0935; FAX (602) 546-0610
Mark Wheeler, MD
Children's Clinic for Rehabilitative Services
2600 N. Wyatt
Tucson, AZ 85712
(520) 626-6077; FAX (520) 626-2881
Metabolic
Kirk Aleck, MD
The University of Arizona
Phoenix Genetics Program
Edwards Medical Plaza
1300 N. 12th St., Ste. 403
Phoenix, AZ 85006
(602) 2394561; FAX (602) 2392207
Randy Heidenreich, MD
Sue Ogden, RN, MSN
The University of Arizona Health Sciences Center
College of Medicine
Department of Pediatrics
1501 N. Campbell Ave.
Tucson, AZ 857245073
(520) 6265175; FAX (520) 6268056
Hemoglobinopathies
Jesse Cohen, MD
Children's Rehabilitative Services
124 W. Thomas
Phoenix, AZ 85013
(602) 2535993; FAX (602) 2534254
Brenda Wittman, MD
University of Arizona
Pediatric Hematology/Oncology Office
1502 North Campbell Ave., Room 3336
Tucson, AZ 85724
(520) 6268278; FAX (520) 6264220
Reporting Procedures for Arizona
KEY: Brdl = borderline values Hb= Hemoglobin Unsats = Unsatisfactory specimens
Recalls = 2nd screening specimens for retesting of a condition that was abnormal on the newborn screen |
Abnormals: Mail test results to submitter and physician of record; follow-up phones physician, parents, and medical consultants as appropriate; letters to physician and parents
Brdl/Recalls: Mail test results to submitter and physician of record; follow-up phones physician and letters to physician and parents
Unsats: Fax to submitter and letter to parents and physician of record
Hb Traits: Mail test results to submitter and physician of record; follow-up mails letters to physician and parents
Normals: Mail test results to submitter and physician of record |
Conditions Screened
These are the conditions screened for in Arizona. This information can change. Tests may be added to or deleted from the panel. Check with your state screening program or check back here for updated information.
Arizona : 28 disorders including hearing loss, 29 disorders in October 2007
Amino Acid Metabolism Disorders
- Phenylketonuria (PKU)
- Maple syrup urine disease
- Homocystinuria
- Citrullinemia
- Tyrosinemia type I
- Argininosuccinic acidemia
Fatty Acid Oxidation Disorders
- Medium chain acyl-CoA dehydrogenase deficiency (MCADD)
- Very long-chain acyl-CoA dehydrogenase deficiency
- Long-chain L-3-OH acyl-CoA dehydrogenase deficiency
- Trifunctional protein deficiency
- Carnitine uptake defect
Organic Acid Disorders
- Isovaleric acidemia
- Glutaric acidemia type I
- 3-OH 3-CH3 glutaric aciduria
- Multiple carboxylase deficiency
- Methylmalonic acidemia
- Methylmalonic acidemia (mutase deficiency)
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Propionic acidemia
- Beta-ketothiolase deficiency
Hemoglobin Disorders
- Hb S/Beta-thalassemia
- Hb S/C disease
- Sickle cell anemia
Other Disorders
- Congenital hypothyroidism
- Congenital adrenal hyperplasia
- Biotinidase deficiency
- Galactosemia
- Hearing Loss
- Cystic Fibrosis (added by October 2007)
Testing Methods Used and Definition of
Abnormal Values for
Newborn Screening
Laboratories in the Region
Key: |
BIO = Biotinidase Deficiency
CF = Cystic Fibrosis
Hb/SC = Hemoglobinopathies/ Sickle Cell
IEF = Isoelectric Focusing
MSUD = Maple Syrup Urine Disease
TRF = Time Resolved Fluorescence
|
CAH = Congenital Adrenal Hyperplasia
CH = Congenital Hypothyroidism
HCU = Homocystinuria
IRT = Immunoreactive Trypsinogen
|
OHP = Hydroxypro-gesterone
GAL = Galactosemia
HPLC = High Performance Liquid Chromotography
PKU = Phenylketonuria
|
Condition |
Analyte |
Units |
Cutoff |
Congenital Hypothyroidism |
T4 - 1st |
µg/dL |
> 6.0 |
T4 - 2nd |
µg/dL |
> 5.0 |
TSH - 1st |
µU/mL |
< 30 |
TSH - 2nd |
µU/mL |
< 20 |
Congenital Adrenal Hyperplasia |
17 OHP < 1250 g |
ng/mL |
< 135.0 |
17 OHP 1251 - 1750 |
ng/mL |
< 90.0 |
17 OHP > 1751 |
ng/mL |
< 70.0 |
Hemoglobinopathies |
Hgb |
FA Normal |
FA Normal |
Biotinidase Deficiency |
Biotinidase |
Enzyme |
Enzyme |
Galactosemia |
GALT - Normal |
U/g Hb |
≥ 1.1 |
GALT - Equivocal |
U/g Hb |
> 0.8 to 1.0 |
GALT - Abnormal |
U/g Hb |
≤ 0.7 |
Phenylalanine |
Phenylalanine |
mg/dL |
< 2.5 |
Maple Syrup Urine Disease |
Leucine - 1st |
mg/dL |
< 4.0 |
Leucine - 2nd |
mg/dL |
< 6.0 |
Homocystinuria |
Methionine |
mg/dL |
< 1.5 |
Citrullinemia & Argininosuccinic Acidemia |
Citrulline - 1st |
mg/dL |
< 1.6 |
Citrulline - 2nd |
mg/dL |
< 2.6 |
Tyrosinemia Type 1 |
Tyrosine |
mg/dL |
< 10.0 |
Carnitine Uptake Deficiency |
C0 |
µmol/L |
> 8.00 |
Medium chain acyl-CoA dehydrogenase def. |
C8 |
µmol/L |
< 1.00 |
Very long chain acyl-CoA dehydrogenase def. |
C14:1 |
µmol/L |
< 1.20 |
Long chain 3-OH acyl-CoA & Trifunctional Protein |
C16OH |
µmol/L |
< 0.70 |
Isovaleric Acidemia |
C5 |
µmol/L |
< 0.78 |
C5 - 2nd |
µmol/L |
< 0.92 |
Glutaric Acidemia Type 1 |
C5DC |
µmol/L |
< 0.65 |
Hydroxymethylglutaric coA lysase & 3-MCCD |
C5OH |
µmol/L |
< 1.15 |
C5OH - 2nd |
µmol/L |
< 1.03 |
Multiple Carboxylase Deficiency, MA, & PA |
C3 |
µmol/L |
< 10.00 |
C3 - 2nd |
µmol/L |
< 7.00 |
Beta-ketothiolase Deficiency |
C5:1 |
µmol/L |
< 0.25 |
Appendix A
Rules and Regulations
Arizona Revised Statutes 36-694
Arizona Administrative Code 9-13
Appendix B
How to Contact Your State’s Newborn Hearing Screening Program
Arizona Department of Health Services
Office of Women’s and Children’s Health
Christy Taylor, Newborn Hearing Screening Manager
(602) 364-1409
Last update: January 30, 2007
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