Section R9-13-201. Definitions

In this Article, unless otherwise specified:

1.        “Abnormal result” means an outcome that deviates from the range of values established by:

a.         The Department for an analysis performed as part of a bloodspot test or for a hearing test, or

b.        A health care facility or health care provider for critical congenital heart defect screening.

2.        “Admission” or “admitted” means the same as in A.A.C. R9-10-101.

3.        “AHCCCS”   means   the   Arizona   Health   Care    Cost Containment System.

4.        “Argininosuccinic acidemia” means a congenital disorder characterized by an inability to metabolize the amino acid argininosuccinic acid due to defective argininosuccinate lyase activity.

5.        “Arizona State Laboratory” means the entity operated according to A.R.S. § 36-251.

6.        “Audiological equipment” means an instrument used to help determine the presence, type, or degree of hearing loss by:

a.         Providing       ear-specific         and      frequency-specific stimuli to an individual; or

b.        Measuring an individual’s physiological response to stimuli.

7.        “Audiologist” means the same as in A.R.S. § 36-1901.

8.        “Beta-ketothiolase deficiency” means a congenital disorder characterized by an inability to metabolize 2- methyl-acetoacetyl-CoA due to defective mitochondrial acetoacetyl-CoA thiolase activity.

9.        “Biotinidase deficiency” means a congenital disorder characterized by defective biotinidase activity that causes abnormal biotin metabolism.

10.     “Birth center” means a health care facility that is not a hospital and is organized for the purpose of delivering newborns.

11.     “Blood sample” means capillary or venous blood, but not cord blood, applied to the filter paper of a specimen collection kit.

12.     “Bloodspot test” means multiple laboratory analyses performed on a blood sample to screen for the presence of congenital disorders listed in R9-13-203.

13.     “Carnitine uptake defect” means a congenital disorder characterized by a decrease in the amount of free carnitine due to defective sodium ion-dependent carnitine transporter OCTN2 activity.

14.     “Citrullinemia” means a congenital disorder characterized by an inability to convert the amino acid citrulline and aspartic acid into argininosuccinic acid due to defective argininosuccinate synthetase activity.

15.     “Classic galactosemia” means a congenital disorder characterized by abnormal galactose metabolism due to defective galactose-1-phosphate uridyltranferase activity.

16.     “Congenital adrenal hyperplasia” means a congenital disorder characterized by decreased cortisol production and increased androgen production due to defective 21- hydroxylase activity.

17.     “Congenital disorder” means an abnormal condition present at birth, as a result of heredity or environmental factors, that impairs normal physiological functioning of a human body.

18.     “Congenital hypothyroidism” means a  congenital disorder characterized by deficient thyroid hormone production.

19.     “Critical congenital heart defect” means a heart abnormality or condition present at birth that places a newborn or infant at significant risk of disability or death if not diagnosed soon after birth.

20.     “Cystic fibrosis” means a congenital disorder caused by defective functioning of a transmembrane regulator protein and characterized by damage to and dysfunction of various organs, such as the lungs, pancreas, and reproductive organs.

21.     “Department” means the Arizona Department of Health Services.

22.     “Diagnostic evaluation” means a hearing test performed by an audiologist or a physician to determine whether hearing loss exists, and, if applicable, determine the type or degree of hearing loss.

23.     “Discharge” means the termination of inpatient services to a newborn or an infant.

24.     “Disorder” means a disease or medical condition that may be identified by a laboratory analysis.

25.     “Document” means to establish and maintain information in written, photographic, electronic, or other permanent form.

26.     “Educational materials” means printed or electronic information provided by the Department, explaining newborn and infant screening, any of the congenital disorders listed in R9-13-203, hearing loss, or critical congenital heart defect.

27.     “Electronic” means the same as in A.R.S. § 44-7002.

28.     “First specimen” means the initial specimen that is collected from a newborn who is less than five days of age and sent to the Arizona State Laboratory for testing and recording of demographic information.

29.     “Glutaric acidemia type I” means a congenital disorder characterized by an accumulation of glutaric acid due to defective glutaryl-CoA dehydrogenase activity.

30.     “Guardian” means an individual appointed by a court under A.R.S. Title 14, Chapter 5, Article 2.

31.     “Health care facility means a health care institution defined in A.R.S. § 36-401 where obstetrical care or newborn care is provided.

32.     “Health care provider” means a physician, physician assistant, registered nurse practitioner, or midwife.

33.     “Health-related services” means the same as in A.R.S. § 36-401.

34.     “Hearing screening” means a hearing test to determine the likelihood of hearing loss in a newborn or infant.

35.     “Hearing test” means an evaluation of each of a newborn’s or an infant’s ears, using audiological equipment to:

a.         Screen the newborn or infant for a possible hearing loss;

b.        Determine that the newborn or infant does not have a hearing loss; or

c.         Diagnose a hearing loss in the newborn or infant, including determining the type or degree of hearing loss.

36.     “Hemoglobin S/Beta-thalassemia” means a sickle cell disease in which an individual has one sickle cell gene and one gene for beta thalassemia, another inherited hemoglobinopathy.

37.     “Hemoglobin S/C disease” means a sickle cell disease in which an individual has one sickle cell gene and one gene for another inherited hemoglobinopathy called hemoglobin C.

38.     “Hemoglobinopathy” means a congenital disorder characterized by abnormal production, structure, or functioning of hemoglobin.

39.     “Home birth” means delivery of a newborn, outside a health care facility, when the newborn is not hospitalized within 72 hours of delivery.

40.     “Homocystinuria” means a congenital disorder characterized by abnormal methionine and homocysteine metabolism due to defective cystathione-ß-synthase activity.

41.     “Hospital” means the same as in A.A.C. R9-10-101.

42.     “Hospital services” means the same as in A.A.C. R9-10- 201.

43.     “3-Hydroxy-3-methylglutaric aciduria” means a congenital disorder characterized by the accumulation of 3-hydroxy-3-methylglutaric acid due to a defective 3- hydroxy-3-methylglutaryl-CoA lyase activity.

44.     “Identification code” means a unique set of numbers or letters, or a unique set of both numbers and letters, assigned by the Department to a health care facility, a health care provider, an audiologist, or another person

submitting specimen collection kits to the Arizona State Laboratory or hearing test results to the Department.

45.     “Infant” means the same as in A.R.S. § 36-694.

46.     “Inpatient” means an individual who:

a.         Is admitted to a hospital,

b.        Receives hospital services for 24 consecutive hours, or

c.         Is admitted to a birth center.

47.     “Inpatient services means medical services, nursing services, or other health-related services provided to an inpatient in a health care facility.

48.     “Isovaleric acidemia” means a congenital disorder characterized by an accumulation of isovaleric acid due to defective isovaleryl-CoA dehydrogenase activity.

49.     “Long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency” means a congenital disorder characterized by an inability to metabolize fatty acids that are 12 to 16 carbon atoms in length due to defective long-chain 3- hydroxy acyl-CoA dehydrogenase activity.

50.     “Maple syrup urine disease” means a congenital disorder of branched chain amino acid metabolism due to defective branched chain-keto acid dehydrogenase activity.

51.     “Medical services” means the same as in A.R.S. § 36- 401.

52.     Medium chain acyl-CoA dehydrogenase deficiency” means a congenital disorder characterized by an inability to metabolize fatty acids that are 6 to 10 carbon atoms in length due to defective medium-chain acyl-CoA dehydrogenase activity.

53.     “3-Methylcrotonyl-CoA carboxylase deficiency” means a congenital disorder characterized by an accumulation of 3-methylcrotonyl-glycine due to defective 3- methylcrotonyl-CoA carboxylase activity.

54.     “Methylmalonic acidemia (Cbl A,B)” means a congenital disorder characterized by an accumulation of methylmalonic acid due to defective activity of methylmalonyl-CoA racemase or adenosylcobalamin synthetase.

55.     “Methylmalonic acidemia (mutase deficiency)” means a congenital disorder characterized by an accumulation of methylmalonic acid due to defective methylmalonyl-CoA mutase activity.

56.     “Midwife” means an individual licensed under A.R.S. Title 36, Chapter 6, Article 7, or certified under A.R.S. Title 32, Chapter 15.

57.     “Multiple carboxylase deficiency” means a congenital disorder characterized by an inability to transport or metabolize biotin that leads to defective activity of propionyl-CoA carboxylase, beta-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase.

58.     “Newborn” means the same as in A.R.S. § 36-694.

59.     “Newborn care means medical services, nursing services, and health-related services provided to a newborn.

60.     “Nursing services” means the same as in A.R.S. § 36- 401.

61.     “Obstetrical care” means medical services, nursing services, and health-related services provided to a woman throughout her pregnancy, labor, delivery, and postpartum.

62.     “Organ” means a somewhat independent part of a human body, such as a salivary gland, kidney, or pancreas, which performs a specific function.

63.     “Parent” means a natural, adoptive, or custodial mother or father of a newborn or an infant.

64.     “Parenteral nutrition” means the feeding of an individual intravenously through the administration of a formula containing glucose, amino acids, lipids, vitamins, and minerals.

65.     “Person” means the state, a municipality, district, or other political subdivision, a cooperative, institution, corporation, company, firm, partnership, individual, or other legal entity.

66.     “Phenylketonuria” means a congenital disorder characterized by abnormal phenylalanine metabolism due to defective phenylalanine hydroxylase activity.

67.     “Physician” means an individual licensed under A.R.S. Title 32, Chapters 13, 14, 17, or 29.

68.     “Physician assistant” means an individual licensed under

A.R.S. Title 32, Chapter 25.

69.     “Propionic acidemia” means a congenital disorder characterized by an accumulation of glycine and 3- hydroxypropionic acid due to defective propionyl-CoA carboxylase activity.

70.     “Pulse oximetry” means a non-invasive method of measuring the percentage of hemoglobin in the blood that is saturated with oxygen using a device approved by the

U.S.   Food    and  Drug   Administration   for  use   with newborns or infants less than six weeks of age.

71.     “Registered nurse practitioner”  means  the  same   as  in

A.R.S. § 32-1601.

72.     “Second specimen” means a specimen that is sent to the Arizona State Laboratory for testing and recording of demographic information, after being collected:

a.         From a newborn after a first specimen; or

b.        From an individual at least five days and not older than one year of age, regardless of whether a first specimen was collected.

73.     “Severe combined immunodeficiency” means a congenital disorder usually characterized by a defect in both the T- and B-lymphocyte systems, which typically results in the onset of one or more serious infections within the first few months of life.

74.     “Sickle cell anemia” means a sickle cell disease in which an individual has two sickle cell genes.

75.     “Sickle cell disease” means a hemoglobinopathy characterized by an abnormally shaped red blood cell resulting from the abnormal structure of the protein hemoglobin.

76.     “Sickle cell gene” means a unit of inheritance that is involved in producing an abnormal type of the protein hemoglobin, in which the amino acid valine is substituted for the amino acid glutamic acid at a specific location in the hemoglobin.

77.     Specimen means a blood sample obtained from and demographic information about a newborn or an infant.

78.     “Specimen collection kit” means a strip of filter paper for collecting a blood sample attached to a form for obtaining the information specified in R9-13-203(C)(3) about a newborn or an infant.

79.     Transfer means a health care facility or health care provider discharging a newborn and sending the newborn to a hospital for inpatient medical services without the intent that the patient will be returned to the sending health care facility or health care provider.

80.     “Transfusion” means the infusion of blood or blood products into the body of an individual.

81.     “Trifunctional protein deficiency” means a congenital disorder characterized by an inability to metabolize fatty acids that are 12 to 18 carbon atoms in length due to defective mitochondrial trifunctional protein activity.

82.     “Tyrosinemia type  I”  means  a  congenital disorder characterized by an accumulation of the amino acid tyrosine due to defective fumarylacetoacetate hydrolase activity.

83.     “Verify” means to confirm by obtaining information through a source such as the newborn screening program, a health care provider, a health care facility, or a documented record.

84.     “Very long-chain acyl-CoA dehydrogenase deficiency” means a congenital disorder characterized by an inability to metabolize fatty acids that are 14 to 18 carbon atoms in length due to defective very long-chain acyl-CoA dehydrogenase activity.

85.     “Working day” means 8:00 a.m. through 5:00 p.m. Monday through Friday, excluding state holidays.

Historical Note

Amended effective October 26, 1977 (Supp. 77-5).

Former Section R9-13-201 repealed, new Section R9-13- 201 adopted effective July 16, 1981 (Supp. 81-4).

Amended as an emergency effective September 21, 1982, pursuant to A.R.S. § 41-1003, valid for only 90 days (Supp. 82-5). Emergency expired. Permanent rule adopted effective March 22, 1983 (Supp. 83-2). Amended

by adding paragraphs (3), (5) and (7) and renumbering

remaining paragraphs effective November 23, 1983. Amended as an emergency, by adding paragraphs (32) and (42) and renumbering remaining paragraphs, effective November 23, 1983, pursuant to A.R.S. § 41-

1003, valid for only 90 days (Supp. 83-6). Emergency amendment expired. Permanent amendment, adding paragraphs (32) and (42) and renumbering remaining paragraphs adopted effective March 19, 1984 (Supp. 84- 2). Amended as an emergency effective November 6, 1989, pursuant to A.R.S. § 41-1026, valid for only 90 days (Supp. 89-4). Emergency expired. Readopted as an emergency effective February 7, 1990, pursuant to A.R.S.

§ 41-1026, valid for only 90 days (Supp. 90-1). Re- adopted as an emergency with changes effective May 7, 1990, pursuant to A.R.S. § 41-1026, valid for only 90 days (Supp. 90-2). Readopted as an emergency with changes effective August 6, 1990, pursuant to A.R.S. § 41-1026, valid for only 90 days (Supp. 90-3). Readopted as an emergency without change effective October 31, 1990, pursuant to A.R.S. § 41-1026, valid for only 90 days (Supp. 90-4). Readopted as an emergency with changes effective January 16, 1991, pursuant to A.R.S. § 41-1026, valid for only 90 days (Supp. 91-1). Readopted as an emergency without change effective April 11, 1991, pursuant to A.R.S. § 41-1026, valid for only 90 days (Supp. 91-2). Emergency amendments permanently adopted with changes effective July 3, 1991 (Supp. 91-3).

Amended effective December 16, 1996 (Supp. 96-4). Section automatically repealed by final rulemaking at 3

A.A.R. 146, effective September 24, 1998 (Supp. 99-1). New Section recodified from R9-14-501 at 11 A.A.R. 3577, effective August 31, 2005 (Supp. 05-3). Amended by final rulemaking at 12 A.A.R. 1166, effective April 4, 2006 (Supp. 06-2). Amended by final rulemaking at 20

A.A.R. 953, effective April 1, 2014 (Supp. 14-2). Amended by final exempt rulemaking at 21 A.A.R. 1083,

effective July 1, 2015 (Supp. 15-2).