Okla. Admin. Code § 310:550-1-2
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 to the newborn. 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 that 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 those of a male, 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 disabilities.
"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 mucous membranes causes dehydration of secretions. The result is a production of a thick, viscous mucous that disrupts the normal function of the lungs, gut, and pancreas. This leads to chronic lung infections, fatal lung disease, and problems 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 disorder associated with structural abnormality of hemoglobin, anemia, and variable impaired ability of the red blood cells to carry oxygen.
"Infant" means a child 6 months of age and younger.
"Infant's Physician" means the licensed medical or osteopathic physician listed by the submitter or the individual responsible for the medical care of the infant after discharge from the birthing facility.
"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 care 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 younger.
"Newborn Screening" means the use of various laboratory and clinical tests to screen infants for certain inherited disorders where a potential net benefit and availability of effective treatments have been demonstrated.
"Newborn Screening Form Kit" or "Form Kit" means a filter paper approved by the Department for collection of the newborn screening specimen and associated demographic data.
"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 due to a specific enzyme deficiency, which if not treated early in life, may cause developmental disability and death.
"Pediatric Subspecialist" means a physician licensed in Oklahoma, board certified in pediatrics and a pediatric subspecialty.
"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 Newborn" means a newborn 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 blood specimen collected using a single Form Kit that is suitable in both quantity and quality to perform newborn screening for the disorders approved by the Commissioner of Health and listed in 310:550-1-1. Federal CLIA '88 regulations require that the Form Kit includes the 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 begin when the laboratory reports an abnormal, unsatisfactory screen result, or a result is not reported due to specific collection criteria, and ends with a diagnosis of "normal", the infant is lost to follow-up (repeat testing not achieved), the parent(s) or guardian(s) refuse follow-up, or the affected infant receives appropriate treatment and referral to a pediatric subspecialist.
"Sick Newborn" means a newborn 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)(hemoglobinopathy), which may cause anemia and variable impaired ability of the red blood cells to carry oxygen, and if not treated early in life, may result in severe illness, developmental disability or death.
"Specimen" means blood collected on the Newborn Screening Form Kit.
"Spinal Muscular Atrophy" or "SMA" means conditions in which the loss of specialized nerves cells leads to progressive weakness and atrophy of muscles, and developmental disability. In severe cases, the muscles used for breathing and swallowing may be affected.
"Submitter" means a hospital, other facility, or physician submitting a blood specimen on a Newborn Screening Form Kit.
"The Program" means the Newborn Screening Program in the Department.
"Transfer" means release of the newborn or infant from care and custody from one licensed health facility to another.
"Unsatisfactory Specimen" means a blood specimen submitted on a Form Kit that is not suitable in quantity or quality to perform screening for the disorders approved by the Commissioner of Health and listed in 310:550-1-1 and/or Federal CLIA '88 regulations are not followed and the Form Kit does not include the required patient's name, date of birth, sex, date of collection, test(s) to be performed, and the provider ordering the newborn screen.
"X-Linked Adrenoleukodystrophy" or "X-ALD" means a condition affecting the nervous system and adrenal glands in which the ability of the nerves to relay information to the brain and the adrenal glands to make certain hormones (adrenocortical insufficiency) are impacted. Affected individuals may experience learning and developmental disability, difficulty swallowing, muscle weakness, weight loss, skin changes, vomiting, and coma.
Okla. Admin. Code § 310:550-1-2