Ala. Admin. Code r. 420-10-1-.02

Current through Register Vol. 43, No. 1, October 31, 2024

Section 420-10-1-.02 - Definitions

(a)Phenylketonuria - A congenital disease due to a deficit in the metabolism of the amino acid phenylalanine.

(b)Hypothyroidism - A deficiency of thyroid gland activity with underproduction of thyroxin or the condition resulting from it.

(c)Hemoglobinopathy - Any hemoglobin phenotype which is other than AA.

(d)Physician of Record - The physician who requests the test.

(e)Galactosemia - An inherited error in the metabolism of galactose.

(f)Congenital adrenal hyperplasia - an inherited error in steroid biosynthesis.

(g)Hearing loss - the total or partial inability to hear sound in one or both ears.

(h)Biotinidase deficiency - inherited deficiency caused by the lack of an enzyme involved in biotin synthesis.

(i)Amino acid disorders B inherited disorders in amino acid metabolism.

(j)Fatty acid oxidation disorders B inherited disorders in fatty acid metabolism.

(k)Organic acid disorders B inherited disorders in organic acid metabolism.

(l) Cystic Fibrosis - inherited disorder caused by a defective protein (cystic fibrosis transmembrane regulator, CFTR) involved in the salt balance of the body

(m)Critical Congenital Heart Disease (CCHD) - a subset of congenital heart defects characterized by a diminished availability of oxygen to the body tissues that causes severe and life-threatening symptoms and requires intervention within the first days or first year of life.

(n)Severe Combined Immunodeficiency (SCID) and Related T-Cell Lymphocyte Deficiencies - a group of rare inherited immune disorders in which T lymphocytes are either absent or compromised.

(o)Licensed Midwife - a practitioner who holds a certified professional midwife credential and is licensed by the Alabama State Board of Midwifery to practice midwifery.

(p)Spinal Muscular Atrophy (SMA) - a rare genetic disorder caused by spinal motor neuron gene change.

(q)X-Linked Adrenoleukodystrophy (X-ALD) - a genetic disease that affects the nervous system and the adrenal glands.

(r)Lysosomal Storage Disorders - inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies.

Ala. Admin. Code r. 420-10-1-.02

Filed December 21, 1987. Amended: Filed September 21, 1992; effective October 26, 1992. Amended: Filed September 18, 2002; effective October 23, 2002. Repealed and New Rule: Filed December 17, 2003; effective January 21, 2004. Amended: Filed December 17, 2007; effective January 21, 2008. Amended: Filed May 17, 2013; effective June 21, 2013.

Amended by Alabama Administrative Monthly Volume XXXV, Issue No. 04, January 31, 2017, eff. 3/5/2017.

Amended by Alabama Administrative Monthly Volume XXXVI, Issue No. 10, July 31, 2018, eff. 9/2/2018.

Amended by Alabama Administrative Monthly Volume XL, Issue No. 03, December 30, 2021, eff. 2/13/2022.

Authors: P. Scott Harris, M.D., Thomas M. Miller, M.D.; William J. Callan, Ph.D.; Sharon P. Massingale, Ph.D., Aretha M. Williams, PhD., Lucinda G. Ashley, R.N. - B.C.; Rachael N. Montgomery, B.S.N., R.N.

Statutory Authority:Code of Ala. 1975, §§ 22-2-2, 22-20-3.