(a) “Blood specimen for metabolic, hematologic, endocrinologic, and immunologic disorders” means a dried blood spot on a special filter paper utilized for screening (not diagnostic) tests to establish the likely presence of metabolic, hematologic, endocrinologic, or immunologic disorders.
(b) “Certain structural disorders” includes critical congenital heart defects and other structural disorders.
(c) “Endocrinologic disorder” means the absence or deficiency of a hormone resulting in interference with normal health, growth or development. These disorders include, but are not limited to congenital hypothyroidism and congenital adrenal hyperplasia.
(d) “Hematologic disorder” means, a condition in which a variation in 1 or more of the hemoglobin structural genes or in 1 or more of the genes involved in hemoglobin synthesis produces a variation in hemoglobin structure or synthesis, which results in variation in hemoglobin function. These disorders include, but are not limited to, sickle cell anemia, sickle beta thalassemia, beta thalassemia, alpha thalassemia, hemoglobin C disease and other clinically important variations in hemoglobin structure or synthesis.
(e) “Immunologic disorder” means, a condition in which a variation in the quantity or function of white blood cells results in deficiency of immune function. These disorders include, but are not limited to, severe combined immunodeficiency disorder.
(f) “Kit” means any or all parts of the combined materials, laboratory filter paper specimen forms, Newborn Screening Program brochure, and/or other components provided by the state Newborn Screening Program for the purposes of collection of the blood spot specimen and for submission of the blood spot specimen for laboratory screening.
(g) “Metabolic disorder” means a disorder caused by a genetic alteration, which results in a defect in the structure or function of a specific enzyme or other protein. These disorders include, but are not limited to, phenylketonuria (PKU), galactosemia, maple syrup urine disease (MSUD), and medium chain acyl-CoA dehydrogenase (MCAD) deficiency.
(h) “Newborn infant” means any infant born in the State who is under 4 weeks of age.
(i) The “Newborn Screening Advisory Committee” means a committee, established through this chapter, convened to provide advice and guidance to the Director of Public Health.
(j) “Satisfactory specimen” means a blood spot specimen on which an accurate laboratory analysis for the various disorders can be performed.