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

Current through June, 2024
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.