SECTION 310:550-1-2. Definitions

  The following words or terms, when used in this Chapter, shall have the following meaning, unless the context clearly indicates otherwise:

"Amino Acid Disorders" refers to a group of inherited metabolic conditions in which the body is unable to metabolize or process amino acids properly due to a defective enzyme function. This causes an amino acid or protein build up in the body. If not treated early in life these defects can cause developmental disability or death. Each amino acid disorder is associated with a specific enzyme deficiency. Treatment depends on the specific amino acid disorder.

"Biotinidase Deficiency" means an inherited disease caused by the lack of an enzyme that recycles the B vitamin biotin, which if not treated may cause serious complications, including coma and death.

"Birth Defects Registry" means a registry established by the Commissioner of Health to monitor and track birth defects for all infants born in Oklahoma.

"Birthing Facility" means a facility that provides care during labor and delivery and the newborn infant(s). This includes a unit of a hospital that is licensed and accredited to provide birthing services, or a freestanding birthing center.

"Certified Laboratory" refers to the Oklahoma State Public Health Laboratory and/or a laboratory approved by the Oklahoma State Department of Health to conduct newborn screening.

"CCHD Screening" means the screening test for the detection of critical congenital heart disease that is recommended by the United States Department of Health and Human Services.

"CLIA '88" means the Clinical Laboratory Improvement Amendments of 1988, public law 100-578. This amendment applies to the Federal Law that governs laboratories who examine human specimens for the diagnosis, prevention, or treatment of any disease or impairment, or the assessment of the health of human beings.

"Confirmatory Testing" means definitive laboratory testing needed to confirm a diagnosis.

"Congenital Adrenal Hyperplasia" or "CAH" means the most common form of CAH, 21-hydroxylase deficiency. This genetic disorder is caused by the lack of an enzyme that the adrenal gland uses to process hormones. Serious loss of body salt and water can result in death. In girls the genitalia may appear as a male's, and can result in incorrect sex assignment. Hormone treatment is required for life.

"Congenital Hypothyroidism" means a disease caused by a deficiency of thyroid hormone (thyroxine) production, which if not treated leads to developmental and physical disability.

"Critical Congenital Heart Disease" means a congenital heart defect that places an infant at significant risk for disability or death if not diagnosed soon after birth.

"Cystic Fibrosis" means a multisystem genetic disorder in which defective chloride transport across membranes causes dehydration of secretions. The result is a production of a thick, viscous mucus that clogs the lungs. This leads to chronic lung infections, fatal lung disease, and also interferes with digestion. Early detection and treatment can prevent malnutrition, and enhance surveillance and treatment of lung infections.

"Days of Age" means the age of a newborn in 24-hour periods so that a newborn is one day of age 24 hours following the hour of birth for both blood spot screening and pulse oximetry screening.

"Department" refers to the Oklahoma State Department of Health.

"Discharge" means release of the newborn from care and custody of a perinatal licensed health facility to the parents or into the community.

"Disorder" means any condition detectable by newborn screening that allows opportunities, not available without screening, for early treatment and management to prevent developmental disability and/or reduce infant morbidity and mortality.

"Echocardiogram" means a test that uses ultrasound to provide an image of the heart.

"Fatty Acid Oxidation Disorders" refers to a group of inherited metabolic conditions in which the body is unable to oxidize (breakdown) fatty acids for energy due to a defective enzyme function. If not treated early in life this defect may cause developmental disability or death.

"Galactosemia" means an inherited disease caused by the body's failure to break down galactose due to a defective enzyme function, which if not treated early in life may cause developmental disability or death.

"Hemoglobin" means a protein in the red blood cell that carries oxygen.

"Hemoglobinopathy" means an inherited hemoglobin disorder.

"Infant" means a child 6 months of age and under.

"Infant's Physician" means the licensed medical or osteopathic physician listed by the submitter or the individual responsible for the medical care of the newborn.

"Initial Specimen" means the first blood specimen collected subsequent to birth, pursuant to these procedures.

"Long-term Follow-up" means follow-up services that begin with diagnosis and treatment and continues throughout the lifespan. This includes parent education, networking, referral, and case coordination.

"Medical Home" means a Planned Health Care Provider.

"Medium-chain acyl coenzyme A dehydrogenase deficiency" or "MCAD" means a genetic disorder of fatty acid metabolism. This disorder can cause metabolic crisis when an infant/child fasts. This crisis can lead to seizures, failure to breathe, cardiac arrest and death. Treatment is effective by preventing fasting.

"Mucopolysaccharidosis Type I" or "MPS I" means a condition in which individuals are missing an enzyme to break down large sugar molecules. This disorder can impact many different organs and tissue leading to developmental delays if not identified and treated early.

"Newborn" means an infant thirty (30) days of age and under.

"Newborn Screening" or "newborn screening tests" means screening infants for the disorders of phenylketonuria, congenital hypothyroidism, galactosemia, sickle cell diseases, cystic fibrosis, congenital adrenal hyperplasia, medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD), biotinidase deficiency, amino acid disorders, fatty acid oxidation disorders, organic acid disorders, Severe Combined Immunodeficiency (SCID) spinal muscular atrophy (SMA), x-linked adrenoleukodystrophy (X-ALD), mucopolysaccharidoisis type I (MPS I) and pompe disease upon completion of laboratory validation studies, establishment of short-term follow-up services, and approval by the Commissioner of Health. Also includes critical congenital heart disease (CCHD) via pulse oximetry screening conducted by birthing facilities on all newborns born in the state of Oklahoma.

"Newborn Screening Form Kit" or "Form Kit" means an approved by the Department for collection of the newborn screening specimen.

"Newborn Screening Laboratory" means a laboratory operated by the Department or a laboratory certified by the Department to conduct the tests and carry out the follow-up required by these procedures.

"Newborn Screening Program" or "The Program" refers to the Public Health Laboratory and Short-term Follow-up Program at the Department.

"Newborn Screening Program Coordinator" refers to the coordinator of the Short-term Follow-up Program at the Department.

"Organic Acid Disorders" refers to a group of inherited metabolic conditions in which the body is unable to metabolize or process organic acids properly. Each organic acid disorder is associated with a specific enzyme deficiency that causes the accumulation of organic acids in blood and urine. The accumulated compounds or their metabolites are toxic, resulting in the clinical features of these disorders including developmental disability and death.

"Pediatric Sub-Specialist" means a physician licensed in Oklahoma, board certified in pediatrics and board certified in a pediatric sub- specialty of pediatric endocrinology, pediatric pulmonology, or pediatric hematology; or a physician licensed in Oklahoma, board certified in pediatrics whose primary area of practice is pediatric endocrinology, pediatric hematology, pediatric pulmonology, or metabolic specialist.

"Phenylketonuria" or "PKU" means an inherited disease caused by the body's failure to convert the amino acid phenylalanine to tyrosine due to defective enzyme function, which if not treated early in life, causes developmental disability.

"Planned Health Care Provider" or "Medical Home" means the health care provider who will be providing health care for the infant after discharge from the hospital.

"Pompe" or "Pompe Disease" means a condition in which individuals are missing an enzyme to break down complex sugar molecules. This disorder can lead to muscle weakness, poor muscle tone and heart defects if not identified and treated early.

"Premature Infant" means an infant weighing less than 2500 grams or any live birth before the thirty-seventh week of gestation.

"Pulse Oximetry Screening" means a test using a device placed on an extremity to measure the percentage of oxygen in the blood.

"Repeat Specimen" means an additional newborn screening specimen to be collected after the initial specimen.

"Satisfactory Specimen" means a specimen collected using a single form kit which is suitable in both blood quantity and quality to perform screening for phenylketonuria, congenital hypothyroidism, galactosemia, sickle cell disease, cystic fibrosis, congenital adrenal hyperplasia, medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD), biotinidase deficiency, amino acid disorders, fatty acid oxidation disorders, organic acid disorders, Severe Combined Immunodeficiency (SCID) spinal muscular atrophy (SMA), x-linked adrenoleukodystrophy (X-ALD), mucopolysaccharidoisis type I (MPS I) and pompe disease upon completion of laboratory validation studies, establishment of short-term follow-up services, and approval by the Commissioner of Health. All requested demographic information on the form kit must be completed. Federal CLIA '88 regulations require that the form kit must include patient's name, date of birth, sex, date of collection, test(s) to be performed, and complete name and address of person requesting the test.

"Screened" means a specimen that has been collected and tested on an infant less than 6 months of age.

"Screening" means a test to sort out well persons who may have a disease or defect from those who may not. A screening test is not intended to be diagnostic.

"Severe Combined Immunodeficiency" means a group of potentially fatal inherited disorders related to the immune system, which if not treated can lead to potentially deadly infections.

"Short-term Follow-up" includes services provided by the Department and the health care provider that begins when the laboratory reports an abnormal or unsatisfactory screen result and ends with a diagnosis of normal, lost (repeat testing not achieved), or affected with appropriate treatment and referral has been initiated.

"Sick Infant" means an infant with any condition or episode marked by pronounced deviation from the normal healthy state; illness.

"Sickle Cell Disease" means an inherited disease caused by abnormal hemoglobin(s) which if not treated early in life may result in severe illness, developmental disability or death (one variation is commonly referred to as sickle cell anemia).

"Specimen" means blood collected on the filter paper Newborn Screening Form Kit.

"Spinal Muscular Atrophy" or "SMA" means conditions in which the loss of specialized nerves cells, which control muscle movement leads to weakness and atrophy of muscles used for crawling, walking, sitting up and controlling head movement. In severe cases the muscles used for breathing and swallowing may be affected.

"Submitter" means a hospital, other facility, or physician submitting a Newborn Screening specimen.

"The Program" means the Newborn Screening Program.

"Transfer" means release of the newborn from care and custody from one licensed health facility to another.

"Unsatisfactory Specimen" means a specimen which is not collected on a form kit and/or is not suitable in blood quantity and quality to perform screening for phenylketonuria, congenital hypothyroidism, galactosemia, sickle cell disease, cystic fibrosis, congenital adrenal hyperplasia, medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD), biotinidase deficiency, amino acid disorders, fatty acid oxidation disorders, organic acid disorders, severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), x-linked adrenoleukodystrophy (X-ALD), mucopolysaccharidoisis type I (MPS I) and pompe disease upon completion of laboratory validation studies, establishment of short-term follow-up services, and approval by the Commissioner of Health and/or Federal CLIA '88 regulations are not followed and the form kit's laboratory requisition does not include patient's name, date of birth, sex, date of collection, test(s) to be performed, and complete name and address of person requesting test.

"X-Linked Adrenoleukodystrophy" or "X-ALD" means condition in which the nervous system and adrenal glands are affected. Impact to the nervous system reduces the ability of the nerves to relay information to the brain. Impact to the adrenal glands may cause weakness, weight loss, skin changes, vomiting, and coma.

[Source: Amended at 8 Ok Reg 3115, eff 7-12-91 (emergency); Amended at 9 Ok Reg 1475, eff 5-1-92; Amended at 12 Ok Reg 41, eff 10-5-94 (emergency); Amended at 12 Ok Reg 1685, eff 6-12-95; Amended at 15 Ok Reg 121, eff 10-15-97 (emergency); Amended at 15 Ok Reg 1979, eff 5-26-98; Amended at 21 Ok Reg 1286, eff 5-27-04; Amended at 25 Ok Reg 105, eff 10-2-07 (emergency); Amended at 25 Ok Reg 1153, eff 5-25-08; Amended at 31 Ok Reg 1596, eff 9-12-14; Amended at 36 Ok Reg 1688, eff 9-13-19]