Washington Administrative Code › Title 246 - Health, Department of › LABORATORY › Chapter 246-650 - Newborn screening › Section 246-650-010 - Definitions

Current through Register Vol. 24-14, July 15, 2024
The definitions in this section apply throughout this chapter
				  unless the context clearly requires otherwise.
(1) "Amino acid disorders" means
				argininosuccinic acidemia (ASA), citrullinemia type I (CIT), homocystinuria
				(HCY), maple syrup urine disease (MSUD), phenylketonuria (PKU), and tyrosinemia
				type I (TYR I), which may cause severe complications including intellectual
				disability, coma, seizures, and possibly death.
(2) "Board" means the Washington state board
				of health.
(3) "Biotinidase
				deficiency" means a deficiency of an enzyme (biotinidase) that facilitates the
				body's recycling of biotin. The result is biotin deficiency, which if
				undetected and untreated, may result in severe neurological damage or
				death.
(4) "Congenital adrenal
				hyperplasia" means a severe disorder of adrenal steroid metabolism which may
				result in death of an infant during the neonatal period if undetected and
				untreated.
(5) "Congenital
				hypothyroidism" means a disorder of thyroid function during the neonatal period
				causing impaired mental functioning if undetected and untreated.
(6) "Critical congenital heart disease" means
				an abnormality in the structure or function of the heart that exists at birth,
				causes severe, life-threatening symptoms, and requires medical intervention
				within the first year of life.
(7)
				"Cystic fibrosis" means a life-shortening disorder caused by mutations in the
				gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a
				transmembrane protein involved in ion transport. Affected individuals suffer
				from chronic, progressive pulmonary disease and nutritional deficits. Early
				detection and enrollment in a comprehensive care system provides improved
				outcomes and avoids the significant nutritional and growth deficits that are
				evident when diagnosed later.
(8)
				"Department" means the Washington state department of health.
(9) "Fatty acid oxidation disorders" means
				carnitine uptake defect (CUD), long-chain L-3-OH acyl-CoA dehydrogenase
				deficiency (LCHADD), medium-chain acyl-CoA dehydrogenase deficiency (MCADD),
				trifunctional protein deficiency (TFP), and very long-chain acyl-CoA
				dehydrogenase deficiency (VLCADD). These disorders can lead to hypoglycemia and
				metabolic crises resulting in serious damage affecting the brain, liver, heart,
				eyes, muscle, and possibly death.
(10) "Galactosemia" means a deficiency of
				enzymes that help the body convert the simple sugar galactose into glucose
				resulting in a buildup of galactose and galactose-1-PO4
				in the blood. If undetected and untreated, accumulated
				galactose-1-PO4 may cause significant tissue and organ
				damage often leading to sepsis and death.
(11) "Hemoglobinopathies" means a group of
				hereditary blood disorders caused by genetic alteration of hemoglobin which
				results in characteristic clinical and laboratory abnormalities and which leads
				to developmental impairment or physical disabilities.
(12) "Newborn" means an infant born in any
				setting in the state of Washington.
(13) "Newborn screening specimen/information
				form" means a form provided by the department for collecting a newborn's dried
				blood spots and information used to screen for congenital disorders under this
				chapter. This includes the filter paper portion and associated dried blood
				spots.
(14) "Mucopolysaccharidosis
				I (MPS-I)" means a multisystem disorder caused by mutations in the
				alpha-L-iduroni-dase gene in which a lysosomal enzyme is deficient, leading to
				accumulation of mucopolysaccharides (a type of carbohydrate) and other
				metabolites. This includes Hurler, Hurler-Scheie, and Scheie
				syndromes.
(15) "Organic acid
				disorders" means 3-OH 3-CH3 glutaric aciduria (HMG), betaketothiolase
				deficiency (BKT), glutaric acidemia type I (GA 1), isovaleric acidemia (IVA),
				methylmalonic acidemia (CblA,B), methylmalonic acidemia (mutase deficiency)
				(MUT), multiple carboxylase deficiency (MCD), and propionic acidemia (PROP).
				These disorders can lead to metabolic crises resulting in severe nerve damage,
				physical damage, and possibly death.
(16) "Pompe disease" means a neuromuscular
				disorder caused by mutations in the acid glucosidase gene which result in
				reduced or absent activity of the acid alpha glucosidase enzyme.
(17) "Significant screening test result"
				means a laboratory test result indicating a suspicion of abnormality and
				requiring diagnostic evaluation of the involved infant for a specific
				congenital disorder.
(18) "Severe
				combined immunodeficiency (SCID)" means a group of congenital disorders
				characterized by profound deficiencies in T- and B- lymphocyte function. This
				results in very low or absent production of the body's primary infection
				fighting processes that, if left untreated, results in severe recurrent, and
				often life-threatening infections within the first year of life.
(19) "Spinal muscular atrophy (SMA)" means a
				genetic disorder caused by mutations in the survival motor neuron 1 (SMN1)
				gene, which impairs the function of the survival motor neuron (SMN) protein.
				This results in the loss of motor neurons and causes progressive atrophy of
				skeletal muscles.
(20) "X-linked
				adrenoleukodystrophy (X-ALD)" means a peroxisomal disorder caused by mutations
				in the ABCD1 gene located on the X chromosome. If untreated this can lead to
				adrenocortical deficiency, damage to the nerve cells of the brain, paralysis of
				the lower limbs, mental decline, disability, or death.
Statutory Authority:
					 Chapter
					 70.83 RCW. 08-13-073,
					 § 246-650-010, filed 6/16/08, effective 7/17/08. Statutory Authority:
					 Chapters
					 70.83,
					 43.20 RCW. 06-04-009, §
					 246-650-010, filed 1/20/06, effective 2/20/06; 03-24-026, § 246-650-010,
					 filed 11/24/03, effective 12/25/03. Statutory Authority:
					 RCW
					  43.20.050. 91-02-051 (Order 124B), recodified
					 as § 246-650-010, filed 12/27/90, effective 1/31/91. Statutory Authority:
					 Chapters
					 43.20 and
					 70.83 RCW. 91-01-032 (Order 114B),
					 § 248-103-010, filed 12/11/90, effective 1/11/91. Statutory Authority:
					 RCW
					  43.20.050 and
					 70.83.050. 87-11-040 (Order 303),
					 § 248-103-010, filed 5/18/87.