Download 511-5-5-.01 Definitions Unless a different meaning is

511-5-5-.01
Definitions
Unless a different meaning is required by the context, the following terms as used in these rules
shall have the meaning hereinafter ascribed to same:
(a) "Abnormal test result" means any test result different from the screening criteria as
determined by the Department, including, but not limited to, amino acid disorders which include
but are not limited to tests for phenylketonuria, homocystinuria, tyrosinemia, maple syrup urine
disease, citrullinemia, argininosuccinic acidemia; fatty acid oxidation disorders which include
but are not limited to tests for medium-chain acyl Co-A dehydrogenase deficiency, very longchain acyl-CoA dehydrogenase deficiency, long-chain acyl-CoA dehydrogenase deficiency,
trifunctional protein deficiency, carnitine uptake defect, organic acid disorders which include but
are not limited to tests for: beta-ketothiolase deficiency, glutaric acidemia type I, isovaleric
acidemia, propionic acidemia, methylmalonic acidemia, multiple carboxylase deficiency, 3methylcrotonyl-CoA carboxylase deficiency, 3-OH 3-CH3 glutaric aciduria; congenital adrenal
hyperplasia; hypothyroidism; biotinidase deficiency; galactosemia; sickle cell hemoglobin
(sickle cell disease, sickle cell trait); cystic fibrosis;
(b) "Adequate blood test" means any test or procedure capable of detecting the screening criteria
established by the Department;
(c) "Adequate specimen" means any satisfactory collection of a specimen used to produce an
adequate blood test and then sent through a traceable mechanism to ensure timely arrival of the
specimen to the approved screening laboratory. The infant's blood for these tests shall be
collected not earlier than twenty-four (24) hours after birth and no later than when the infant is
one week old. The screening specimen and the required patient information must be sent to an
approved laboratory on the day of collection or next business day for an adequate test;
(d) "Approved laboratory" means a laboratory licensed by the Department to perform newborn
screening tests for phenylketonuria, homocystinuria, tyrosinemia, maple syrup urine disease,
citrullinemia, argininosuccinic acidemia, medium-chain acyl Co-A dehydrogenase deficiency,
very long-chain acyl-CoA dehydrogenase deficiency, long-chain acyl-CoA dehydrogenase
deficiency, trifunctional protein deficiency, carnitine uptake defect, beta-ketothiolase deficiency,
glutaric acidemia type I, isovaleric acidemia, propionic acidemia, methylmalonic acidemia,
multiple carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-OH 3-CH3
glutaric aciduria; congenital adrenal hyperplasia; hypothyroidism; biotinidase deficiency;
galactosemia; sickle cell hemoglobin (sickle cell disease, sickle cell trait); cystic fibrosis;
(e) "Amino acid disorders" mean inherited disorders in the metabolism of amino acids and
includes, but not limited to: phenylketonuria, homocystinuria, tyrosinemia, maple syrup urine
disease, citrullinemia, argininosuccinic academia;
(f) "Biotinidase deficiency" means the lack of biotinidase enzyme activity;
(g) "Congenital adrenal hyperplasia" means an inherited error in the metabolism of steroid
hormones;
(h) "Counsel" means the giving of information and advice appropriate to the individual situation;
(i) "Cystic fibrosis" means a congenital disorder caused by defective function of a
transmembrane regulator protein and characterized by damage to and dysfunction of various
organs, such as the lungs, pancreas, and reproductive organs;
(j) "Department" means the Department of Human Resources of the State of Georgia;
(k) "Diagnostic/Confirmatory test" means further test(s) of the specimen to diagnosis of inherited
disorders of the newborn;
(l) "Fatty Acid Oxidation Disorders" mean inherited disorders of the oxidation of fatty acids to a
chemical that can be used for energy and include, but not limited to: medium-chain acyl Co-A
dehydrogenase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, Long-chain
acyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, carnitine uptake defect;
(m) "Follow-up contractor" means a facility contracted by the Department to provide a
consultative program which is capable of performing diagnostic tests, appropriate therapy and
genetic counseling for inherited metabolic disorders and abnormal hemoglobin;
(n) "Galactosemia" means an inherited disorder in the metabolism of galactose;
(o) "Hospital" means any institution designed, equipped and staffed to receive two or more
persons for diagnosis, treatment and other health services under the supervision of a practitioner
for periods continuing twenty-four (24) hours or longer, and in which professional policies are
adopted by the governing body after consultation with the active professional staff;
(p) "Hypothyroidism" means a deficient amount or activity of thyroid hormone;
(q) "Newborn Screening Advisory Committee" means a multi-disciplinary group of professional
and consumer representatives with knowledge and expertise in newborn screening programs.
The committee is appointed by the Commissioner of Public Health with recommendations from
the Maternal & Infant Council. At least one member of the Maternal & Infant Council serves on
the committee. The committee is supported by staff from the Family Health Branch and the
Georgia Public Health Laboratory.
(r) "Organic Acid Disorders" means inherited disorders associated with a specific enzyme
deficiency that causes the accumulation of organic acids in blood and urine and include but not
limited to: beta-ketothiolase deficiency, isovaleric acidemia, propionic acidemia, methylmalonic
acidemia, multiple carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-OH
3-CH3 glutaric aciduria;
(s) "Patient Required Information" means information as specified on forms provided by the
Department for this purpose;
(t) "Physician" means a person lawfully licensed in Georgia to practice medicine and surgery
pursuant to Chapter 43-34 of the Official Code of Georgia Annotated;
(u) "Screening test" means the initial test of the specimen to identify abnormal results;
(v) "Sickle Cell Disease" includes sickle cell anemia and other sickle cell syndromes in which an
individual has inherited sickle cell hemoglobin from one parent and, either sickle cell
hemoglobin, or another abnormal hemoglobin, from the other parent resulting in a clinically
significant sickling disorder;
(w) "Sickle Cell Hemoglobin" means an abnormal hemoglobin which results from an inherited
defect and which produces the sickling phenomenon in erythrocytes;
(x) "Sickle Cell Trait" is a condition in which the individual has inherited sickle cell hemoglobin
from one parent and normal hemoglobin from the other (heterozygous). Other carrier states
(traits) occur when the individual has inherited another abnormal hemoglobin from one parent
and normal hemoglobin from the other.
Authority: O.C.G.A. Secs. 31-2A-6, 31-12-5 to 31-12-7. History: Original Rule entitled “Definitions” adopted. F.
Sep. 20, 2013; eff. Oct. 10, 2013.