Hawaii Administrative Rules
Title 11 - DEPARTMENT OF HEALTH
Subtitle 1 - GENERAL DEPARTMENTAL PROVISIONS
Chapter 143 - TESTING OF NEWBORN INFANTS FOR METABOLIC AND OTHER DISEASES
Section 11-143-3 - Definitions
As used in this chapter:
"Acceptable specimen" means a specimen on which an accurate laboratory analysis can be performed for the disease for which it was submitted.
"Amino acid disorders" means a group of hereditary disorders caused by enzymatic defects, which result in a toxic accumulation of certain amino acids in the blood.
"Biotinidase deficiency" means a recessively inherited disease which affects the regeneration of the vitamin-cofactor biotin and impairs the metabolism of mitochondrial carboxylases.
"Birth attendant" means any person licensed or certified by the State to provide maternity care and to deliver pregnant women, or any person assisting the birth of an infant not attended by a licensed or certified practitioner. Transport personnel are excluded.
"Confirmatory specimen" means a specimen collected for the purpose of performing a confirmatory test.
"Confirmatory test" means a test performed on a specimen to determine the validity of a previous positive test.
"Congenital adrenal hyperplasia" means a group of hereditary diseases caused by inborn error of Cortisol production.
"Congenital hypothyroidism" means a disease of the thyroid gland which results in deficiency of thyroid hormone in the neonate.
"Cystic fibrosis" means a recessively inherited disease which causes thick, sticky mucus and fluids to build up in certain organs of the body, especially the lungs and pancreas.
"Department" means the department of health, State of Hawaii.
"Designated laboratory" means a laboratory selected by the department to perform newborn screening tests.
"Director" means the director of the state department of health.
"Fatty acid oxidation disorders" means a group of hereditary disorders caused by defects in enzymes which are involved in the breakdown of dietary and stored fats to energy.
"Galactosemia" means a disease, usually due to a single enzyme deficiency of genetic origin, which results in an abnormal increase in the concentration of galactose in the blood.
"Hemoglobinopathies" means conditions in which a mutation in the hemoglobin gene, or in genes involved in hemoglobin synthesis, produces variations in the hemoglobin structure, function, or quantity.
"Hospital" means any health facility licensed by the State and approved to provide perinatal and pediatric services.
"Initial specimen" means the first specimen collected for newborn screening.
"Kit" means materials provided by the designated laboratory for the purposes of newborn screening specimen collection and submission of specimens for newborn screening laboratory tests.
"Maple syrup urine disease" means a recessively inherited disease which is characterized by an inability to metabolize the branched chain amino acids, leucine, isoleucine, and valine.
"Negative" means a laboratory result on an acceptable specimen which is designated as having insufficient risk for disease to justify follow-up action.
"Newborn screening specimen" means a fluid or tissue collected from the newborn to be submitted for newborn screening tests.
"Newborn screening test" means a laboratory procedure performed on newborns to detect those at sufficiently increased risk for the diseases specified in section 11-143-4 to justify follow-up action.
"Organic acid disorders" means a group of hereditary disorders caused by enzymatic defects which result in a toxic accumulation of certain organic acids in the blood.
"Phenotype" means an observable or measurable expression of a gene or genes.
"Phenylketonuria" means an inborn error of amino acid metabolism, resulting in an inability to convert phenylalanine to tyrosine.
"Positive" means a laboratory result on an acceptable specimen which is designated as having high risk for disease to justify follow-up action.
"Repeat specimen" means a specimen collected because the previous specimen was unacceptable or previous test results were too early, or otherwise unreliable. The repeat specimen is a redrawn specimen.
"Repeat test" means a test ordered to be performed on a repeat specimen.
"Satisfactorily tested" means that the infant had newborn screening tests on an acceptable specimen or specimens with either negative or position results, and the infant with positive results received appropriate follow-up with repeat or confirmatory tests to establish or disprove the presence of the disease.
"Severe combined immunodeficiency" means a group of hereditary disorders caused by immune system defects which result in reduced or absent T and B lymphocytes leading to a lethal susceptibility to infections.
"Unacceptable specimen" means any specimen which has been improperly collected, handled, or transported to the laboratory such that the specimen cannot be tested to yield acceptable results for the test or tests for which it was submitted.
"Urea cycle disorders" means a group of hereditary disorders, caused by enzymatic defects which result in a toxic accumulation of ammonia in the blood.
"Working day" means an official day of work for administrative programs of the department.
