Ariz. Admin. Code § 9-13-203

Current through Register Vol. 30, No. 45, November 8, 2024

Section R9-13-203 - Newborn and Infant Bloodspot Tests

A. A bloodspot test shall screen for the following congenital disorders:

1. Amino acid disorders, including:

a. Argininemia, a congenital disorder characterized by an inability to metabolize the amino acid arginine due to defective arginase activity;

b. Argininosuccinic acidemia, a congenital disorder characterized by an inability to metabolize the amino acid argininosuccinic acid due to defective argininosuccinate lyase activity;

c. Biopterin defect in cofactor biosynthesis, a congenital disorder characterized by reduced levels of tetrahydrobiopterin due to a defect in an enzyme that produces tetrahydrobiopterin;

d. Biopterin defect in cofactor regeneration, a congenital disorder characterized by reduced levels of tetrahydrobiopterin due to a defect in an enzyme that recycles tetrahydrobiopterin to a usable form after a metabolic reaction;

e. Citrullinemia type I, 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;

f. Citrullinemia type II, a congenital disorder characterized by a reduction in levels of citrin, which is involved in the transport of glutamate and aspartate, due to a defective SLC25A13 gene;

g. Homocystinuria, a congenital disorder characterized by abnormal methionine and homocysteine metabolism due to defective cystathione-ÃY-synthase activity;

h. Hypermethioninemia, a congenital disorder characterized by an elevated level of methionine in the bloodstream;

i. Hyperphenylalaninemia (benign), a congenital disorder characterized by an elevated level of phenylalanine in the bloodstream with few, if any, clinical symptoms;

j. Maple syrup urine disease, a congenital disorder of branched chain amino acid metabolism due to defective branched chain-keto acid dehydrogenase activity;

k. Phenylketonuria, a congenital disorder characterized by abnormal phenylalanine metabolism due to defective phenylalanine hydroxylase activity;

l. Tyrosinemia type I, a congenital disorder characterized by an accumulation of the amino acid tyrosine due to defective fumarylacetoacetate hydrolase activity;

m. Tyrosinemia type II, a congenital disorder characterized by an accumulation of the amino acid tyrosine due to defective tyrosine aminotransferase activity; and

n. Tyrosinemia type III, a congenital disorder characterized by an accumulation of the amino acid tyrosine and metabolic product 4-hydroxyphenylpyruvate due to defective 4-hydroxyphenylpyruvate dioxygenase activity;

2. Endocrine disorders, including:

a. Congenital adrenal hyperplasia, a congenital disorder characterized by decreased cortisol production and increased androgen production due to defective 21-hydroxylase activity; and

b. Congenital hypothyroidism, a congenital disorder characterized by deficient thyroid hormone production;

3. Fatty acid oxidation disorders, including:

a. 2,4 Dienoyl-CoA reductase deficiency, a congenital disorder characterized by an accumulation of the amino acid lysine and some fatty acids due to defective 2,4 dienoyl-CoA reductase activity;

b. Carnitine shuttle disorders, including:

i. Carnitine palmitoyltransferase I deficiency, a congenital disorder characterized by the defective activity of carnitine palmitoyltransferase I, resulting in the inability of a cell to transport carnitine and acyl-CoA out of the cytosol;

ii. Carnitine-acylcarnitine translocase deficiency, a congenital disorder characterized by the defective activity of carni-tine-acylcarnitine translocase, resulting in the inability of acylcarnitine to enter the mitochondria; and

iii. Carnitine palmitoyltransferase II deficiency, a congenital disorder characterized by the defective activity of carnitine palmitoyltransferase II, resulting in the inability to transfer acyl-CoA into the mitochondria;

c. Carnitine uptake defect, a congenital disorder characterized by a decrease in the amount of free carnitine due to defective sodium ion-dependent carnitine transporter OCTN2 activity;

d. Glutaric acidemia type II, a congenital disorder characterized by a decrease in the ability to break down proteins and fatty acids due to decreased activity of either electron transfer flavoprotein or electron transfer flavoprotein dehydrogenase;

e. Long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency, a congenital disorder characterized by an inability to metabolize fatty acids that are 12 to 18 carbon atoms in length due to defective long-chain 3-hydroxy acyl-CoA dehydrogenase activity;

f. Medium-chain acyl-CoA dehydrogenase deficiency, 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;

g. Medium-chain ketoacyl-CoA thiolase deficiency, a congenital disorder characterized by an inability to metabolize fatty acids due to defective ketoacyl-CoA thiolase activity;

h. Medium/short chain L-3 hydroxyacyl-CoA dehydrogenase deficiency, a congenital disorder characterized by an inability to metabolize fatty acids that are 3 to 10 carbon atoms in length due to defective 3-hydroxyacyl-CoA dehydrogenase activity;

i. Short chain acyl-CoA dehydrogenase deficiency, a congenital disorder characterized by an inability to metabolize fatty acids that are 6 or fewer carbon atoms in length due to defective short chain acyl-CoA dehydrogenase activity;

j. Trifunctional protein deficiency, 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; and

k. Very long-chain acyl-CoA dehydrogenase deficiency, 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;

4. Hemoglobinopathies, including:

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

b. Hemoglobin S/C disease, a sickle cell disease in which an individual has one sickle cell gene and one gene for another inherited hemoglobinopathy called hemoglobin C;

c. Sickle cell anemia, a sickle cell disease in which an individual has two sickle cell genes; and

d. Other congenital disorders caused by an abnormal hemoglobin protein;

5. Organic acid disorders, including:

a. 2-Methylbutyrylglycinuria, a congenital disorder characterized by an inability to metabolize the amino acid isoleucine, resulting in elevated levels of 2-methylbutryl carnitine, due to defective short/branched chain acyl-CoA dehydrogenase activity;

b. 2-Methyl-3-hydroxybutyric aciduria or HSD10 disease, a congenital disorder characterized by elevated levels of breakdown products of the amino acid isoleucine and a reduction in functional mitochondrial tRNA molecules, which results in impaired mitochondrial synthesis of proteins;

c. 3-Hydroxy-3-methylglutaric aciduria, a congenital disorder characterized by the accumulation of 3-hydroxy-3-methylglu-taric acid due to defective 3-hydroxy-3-methylglutaryl-CoA lyase activity;

d. 3-Methylcrotonyl-CoA carboxylase deficiency, a congenital disorder characterized by an accumulation of 3-methylcroto-nyl-glycine due to defective 3-methylcrotonyl-CoA carboxylase activity;

e. 3-Methylglutaconic aciduria, a congenital disorder characterized by elevated levels of 3-methylglutaconic acid due to defective 3-methylglutaconyl-CoA hydratase activity or a related enzyme;

f. Beta-ketothiolase deficiency, a congenital disorder characterized by an inability to metabolize 2-methyl-acetoacetyl-CoA due to defective mitochondrial acetoacetyl-CoA thiolase activity;

g. Glutaric acidemia type I, a congenital disorder characterized by an accumulation of glutaric acid due to defective glutaryl-CoA dehydrogenase activity;

h. Holocarboxylase synthase deficiency, a congenital disorder of multiple carboxylase deficiencies 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;

i. Isobutyrylglycinuria, a congenital disorder characterized by an inability to metabolize the amino acid valine due to defective isobutyryl-CoA dehydrogenase activity;

j. Isovaleric acidemia, a congenital disorder characterized by an accumulation of isovaleric acid due to defective isovaleryl-CoA dehydrogenase activity;

k. Malonic acidemia, a congenital disorder characterized by an inability to metabolize fatty acids due to defective malonyl-CoA decarboxylase activity;

l. Methylmalonic acidemia (cobalamin disorders), a congenital disorder characterized by an accumulation of methylmalonic acid due to defective activity of methylmalonyl-CoA epimerase or adenosylcobalamin synthetase;

m. Methylmalonic acidemia (mutase deficiency), a congenital disorder characterized by an accumulation of methylmalonic acid due to defective methylmalonyl-CoA mutase activity;

n. Methylmalonic acidemia with homocystinuria, a congenital disorder characterized by the abnormal processing of cobalamin, leading to defective activity of methylmalonyl-CoA mutase and methionine synthase, for both of which cobalamin is a cofactor; and

o. Propionic acidemia, a congenital disorder characterized by an accumulation of glycine and 3-hydroxypropionic acid due to defective propionyl-CoA carboxylase activity; and

6. Other disorders, including:

a. Biotinidase deficiency, a congenital disorder characterized by defective biotinidase activity that causes abnormal biotin metabolism and multiple carboxylase deficiencies;

b. Classic galactosemia, a congenital disorder characterized by abnormal galactose metabolism due to defective galactose-1-phosphate uridyltranferase activity;

c. Cystic fibrosis, 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;

d. Galactoepimerase deficiency, a congenital disorder characterized by abnormal galactose metabolism due to defective UTP-galactose 4-epimerase activity;

e. Galactokinase deficiency, a congenital disorder characterized by abnormal galactose metabolism due to defective galactokinase activity;

f. Beginning May 1, 2023, glycogen storage disease type II or Pompe disease, a congenital disorder characterized by the accumulation of the polysaccharide, glycogen, in lysosomes due to a defect in the lysosomal acid alpha-glucosidase enzyme;

g. Beginning May 1, 2023, mucopolysaccaridosis type I, a congenital disorder characterized by the buildup of the glycosaminoglycans, dermatan sulfate and heparan sulfate, due to defective alpha-L-iduronidase activity;

h. Severe combined immunodeficiency, a congenital disorder usually characterized by a defect in both the T- and B-lympho-cyte systems, which typically results in the onset of one or more serious infections within the first few months of life;

i. Spinal muscular atrophy, a congenital disorder characterized by the loss of nerve cells in the spinal cord that control muscle movement due to a defect in the survival motor neuron 1 (SMN1) gene;

j. T-cell related lymphocyte deficiency, a congenital disorder characterized by a defect in the T-lymphocyte system, which typically results in a decrease in cell-mediated immunity and unusually severe common viral infections; and

k. X-linked adrenoleukodystrophy, a congenital disorder characterized by the build-up of very long-chain fatty acids due to a deficiency in the adrenoleukodystrophy protein, caused by a defective ABCD1 gene.

B. When a bloodspot test is ordered for a newborn or an infant, a health care facility's designee, a health care provider, or the health care provider's designee shall:

1. Only use a specimen collection kit supplied by the Department;

2. Collect a blood sample from the newborn or infant on a specimen collection kit;

3. Complete the following information on the specimen collection kit:

a. The newborn's or infant's name, gender, race, ethnicity, medical record number, and, if applicable, AHCCCS identification number;

b. The newborn's or infant's type of food or food source;

c. Whether the newborn or infant is from a single or multiple birth;

d. If the newborn or infant is from a multiple birth, the birth order of the newborn or infant;

e. Whether the newborn or infant has a medical condition that may affect the bloodspot test results;

f. Whether the newborn or infant received a blood transfusion and, if applicable, the date of the last blood transfusion;

g. The date and time of birth, and the newborn's or infant's weight at birth;

h. The date and time of blood sample collection, and the newborn's or infant's weight when the blood sample is collected;

i. The identification code or the name and address of the health care facility or health care provider submitting the specimen collection kit;

j. The name, address, and telephone number or the identification code of the health care provider responsible for the management of medical services provided to the newborn or infant;

k. Except as provided in subsection (B)(3)(l), the mother's first and last names, date of birth, name before first marriage, mailing address, telephone number, and if applicable, AHCCCS identification number; and

l. If the newborn's or infant's mother does not have physical custody of the newborn or infant, the first and last names, mailing address, and telephone number of the person who has physical custody of the newborn or infant; and

4. Submit the specimen collection kit to the Arizona State Laboratory no later than 24 hours or the next working day after the blood sample is collected.

C. A health care facility or a health care provider submitting an initial specimen to the Arizona State Laboratory shall pay the Department the fee in R9-13-208.

D. When a home birth not attended by a health care provider is reported to a local registrar, a deputy local registrar, or the state registrar under A.R.S. § 36-333:

1. The local registrar, deputy local registrar, or state registrar shall notify the local health department of the county where the birth occurred; and

2. The local health department's designee shall:

a. Collect a specimen from the newborn or infant on a specimen collection kit according to the requirements in R9-13-204(A)(2) or R9-13-205(C), and

b. Submit the specimen collection kit to the Arizona State Laboratory no later than 24 hours or the next working day after the blood sample is collected.

E. A health care facility's designee, a health care provider, or the health care provider's designee shall ensure that:

1. Educational materials are provided to the parent or guardian of a newborn or an infant for whom a bloodspot test is ordered, and

2. The newborn's or infant's parent or guardian is informed of the requirement for a second specimen if the second specimen has not been collected.

F. For a home birth, a health care provider or the health care provider's designee shall provide educational materials to the parent or guardian of a newborn or an infant for whom a bloodspot test is ordered.

Ariz. Admin. Code § R9-13-203

Effective 11-74; Former Section R9-13-203 repealed, new Section R9-13-203 adopted effective July 16, 1981 (Supp. 81-4). 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 R9-14-503 at 11 A.A.R. 3577, effective August 31, 2005 (Supp. 05-3). Section repealed; new Section made 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 4/1/2014. Amended by exempt rulemaking at 29 A.A.R. 1083, effective 7/1/2015. Amended by final rulemaking at 23 A.A.R. 3262, effective 11/7/2017. Amended by final expedited rulemaking at 28 A.A.R. 223, effective 12/30/2021. Amended by final rulemaking at 28 A.A.R. 2543, effective 9/8/2022.