(410 ILCS 240/1.10) Sec. 1.10. Critical congenital heart disease. (a) The General Assembly finds as follows: (1) According to the United States Secretary of |
| Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children, congenital heart disease affects approximately 7 to 9 of every 1,000 live births in the United States and Europe. The federal Centers for Disease Control and Prevention state that critical congenital heart disease is the leading cause of infant death due to birth defects.
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(2) Many newborn lives could potentially be saved by
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| earlier detection and treatment of critical congenital heart disease if health care facilities in the State were required to perform a simple, non-invasive newborn screening in conjunction with current screening methods.
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(b) The Department shall require that screening tests for critical congenital heart defects be performed at birthing hospitals and birth centers in accordance with a testing protocol adopted by the Department, by rule, in line with current standards of care, such as pulse oximetry screening, and may authorize screening tests for additional congenital anomalies to be performed at birthing hospitals and birth centers in accordance with a testing protocol adopted by the Department, by rule.
(c) The Department may authorize health care facilities to report screening test results and follow-up information.
(Source: P.A. 98-440, eff. 8-16-13.)
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(410 ILCS 240/2) (from Ch. 111 1/2, par. 4904)
Sec. 2. General provisions. The Department of Public Health shall administer the
provisions of this Act and shall:
(a) Institute and carry on an intensive educational program among
physicians, hospitals, public health nurses and the public concerning disorders included in newborn screening. This
educational program shall include information about the nature of the
diseases and examinations for the detection of the diseases in early
infancy in order that measures may be taken to prevent the disabilities resulting from the diseases.
(a-5) Require that all newborns be screened
for the presence of certain genetic, metabolic, and congenital anomalies as determined by the Department, by rule. (a-5.1) Require that all blood and biological specimens collected pursuant to this Act or the rules adopted under this Act be submitted for testing to the nearest Department laboratory designated to perform such tests. The following provisions shall apply concerning testing: (1) Beginning July 1, 2015, the base fee for newborn |
| screening services shall be $118. The Department may develop a reasonable fee structure and may levy additional fees according to such structure to cover the cost of providing this testing service and for the follow-up of infants with an abnormal screening test; however, additional fees may be levied no sooner than 6 months prior to the beginning of testing for a new genetic, metabolic, or congenital disorder. Fees collected from the provision of this testing service shall be placed in the Metabolic Screening and Treatment Fund. Other State and federal funds for expenses related to metabolic screening, follow-up, and treatment programs may also be placed in the Fund.
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(2) Moneys shall be appropriated from the Fund to the
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| Department solely for the purposes of providing newborn screening, follow-up, and treatment programs. Nothing in this Act shall be construed to prohibit any licensed medical facility from collecting additional specimens for testing for metabolic or neonatal diseases or any other diseases or conditions, as it deems fit. Any person violating the provisions of this subsection (a-5.1) is guilty of a petty offense.
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(3) If the Department is unable to provide the
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| screening using the State Laboratory, it shall temporarily provide such screening through an accredited laboratory selected by the Department until the Department has the capacity to provide screening through the State Laboratory. If screening is provided on a temporary basis through an accredited laboratory, the Department shall substitute the fee charged by the accredited laboratory, plus a 5% surcharge for documentation and handling, for the fee authorized in this subsection (a-5.1).
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(a-5.2) Maintain a registry of cases, including information of importance for the purpose of follow-up services to assess long-term outcomes.
(a-5.3) Supply the necessary metabolic treatment formulas where practicable for diagnosed cases of amino acid metabolism disorders, including phenylketonuria, organic acid disorders, and fatty acid oxidation disorders for as long as medically indicated, when the product is not available through other State agencies.
(a-5.4) Arrange for or provide public health nursing, nutrition, and social services and clinical consultation as indicated.
(a-5.5) Utilize the Genetic and Metabolic Diseases Advisory Committee established under the Genetic and Metabolic Diseases Advisory Committee Act to provide guidance and recommendations to the Department's newborn screening program. The Genetic and Metabolic Diseases Advisory Committee shall review the feasibility and advisability of including additional metabolic, genetic, and congenital disorders in the newborn screening panel, according to a review protocol applied to each suggested addition to the screening panel. The Department shall consider the recommendations of the Genetic and Metabolic Diseases Advisory Committee in determining whether to include an additional disorder in the screening panel prior to proposing an administrative rule concerning inclusion of an additional disorder in the newborn screening panel. Notwithstanding any other provision of law, no new screening may begin prior to the occurrence of all the following:
(1) the establishment and verification of relevant
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| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for U.S. Food and Drug Administration-cleared or in-house developed methods, performed under an institutional review board-approved protocol, if required;
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(2) the availability of quality assurance testing
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| methodology for the processes set forth in item (1) of this subsection (a-5.5);
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(3) the acquisition and installment by the Department
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| of the equipment necessary to implement the screening tests;
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(4) the establishment of precise threshold values
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| ensuring defined disorder identification for each screening test;
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(5) the authentication of pilot testing achieving
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| each milestone described in items (1) through (4) of this subsection (a-5.5) for each disorder screening test; and
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(6) the authentication of achieving the potential of
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| high throughput standards for statewide volume of each disorder screening test concomitant with each milestone described in items (1) through (4) of this subsection (a-5.5).
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(a-6) (Blank).
(a-7) (Blank).
(a-8) (Blank).
(b) (Blank).
(c) (Blank).
(d) (Blank).
(e) (Blank).
(Source: P.A. 98-440, eff. 8-16-13; 98-756, eff. 7-16-14; 99-403, eff. 8-19-15.)
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(410 ILCS 240/3.1) Sec. 3.1. Lysosomal storage disorders. In accordance with the timetable specified in this Section, the Department shall provide all newborns with screening tests for the presence of certain lysosomal storage disorders known as Krabbe, Pompe, Gaucher, Fabry, and Niemann-Pick. The testing shall begin within 6 months following the occurrence of all of the following: (1) the establishment and verification of relevant |
| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;
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(2) the availability of quality assurance testing
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| methodology for these processes;
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(3) the acquisition and installment by the Department
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| of the equipment necessary to implement the screening tests;
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(4) the establishment of precise threshold values
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| ensuring defined disorder identification for each screening test;
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(5) the authentication of pilot testing achieving
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| each milestone described in items (1) through (4) of this Section for each disorder screening test; and
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(6) the authentication of achieving the potential of
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| high throughput standards for statewide volume of each disorder screening test concomitant with each milestone described in items (1) through (4) of this Section.
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It was the goal of Public Act 97-532 that the screening for the specified lysosomal storage disorders begins within 2 years after August 23, 2011 (the effective date of Public Act 97-532). The Department is authorized to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for the specified lysosomal storage disorders.
(Source: P.A. 98-440, eff. 8-16-13.)
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(410 ILCS 240/3.2) Sec. 3.2. Severe combined immunodeficiency disease. In accordance with the timetable specified in this Section, the Department shall provide all newborns with screening tests for the presence of severe combined immunodeficiency
disease (SCID). The testing shall begin within 12 months following the occurrence of all of the following: (1) the establishment and verification of relevant |
| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;
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(2) the availability of quality assurance testing and
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| comparative threshold values for SCID;
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(3) the acquisition and installment by the Department
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| of the equipment necessary to implement the initial pilot and statewide volume of screening tests for SCID;
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(4) the establishment of precise threshold values
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| ensuring defined disorder identification for SCID;
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(5) the authentication of pilot testing achieving
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| each milestone described in items (1) through (4) of this Section for SCID; and
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(6) the authentication of achieving the potential of
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| high throughput standards for statewide volume of the SCID screening test concomitant with each milestone described in items (1) through (4) of this Section.
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It was the goal of Public Act 97-532 that the screening for severe combined immunodeficiency disease begins within 2 years after August 23, 2011 (the effective date of Public Act 97-532). The Department is authorized to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for severe combined immunodeficiency disease.
(Source: P.A. 98-440, eff. 8-16-13.)
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(410 ILCS 240/3.3) Sec. 3.3. Mucopolysacchardosis disorders. In accordance with the timetable specified in this Section, the Department shall provide all newborns with screening tests for the presence of certain lysosomal storage disorders
known as mucopolysaccharidosis I (Hurlers) and mucopolysaccharidosis II (Hunters). The testing shall begin within 12 months following the occurrence of all of the following: (1) the establishment and verification of relevant |
| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;
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(2) the availability of quality assurance testing and
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| comparative threshold values for each screening test and accompanying disorder;
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(3) the acquisition and installment by the Department
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| of the equipment necessary to implement the initial pilot and statewide volume of screening tests for each disorder;
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(4) the establishment of precise threshold values
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| ensuring defined disorder identification for each screening test;
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(5) the authentication of pilot testing achieving
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| each milestone described in items (1) through (4) of this Section for each disorder screening test; and
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(6) the authentication of achieving the potential of
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| high throughput standards for statewide volume of each disorder screening test concomitant with each milestone described in items (1) through (4) of this Section.
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It was the goal of Public Act 97-532 that the screening for the specified lysosomal storage disorders begins within 3 years after August 23, 2011 (the effective date of Public Act 97-532). The Department is authorized to implement an additional fee for the screening prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for the specified lysosomal storage
disorders.
(Source: P.A. 98-440, eff. 8-16-13.)
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(410 ILCS 240/3.4) Sec. 3.4. Adrenoleukodystrophy. In accordance with the timetable specified in this Section, the Department shall provide all newborns with screening tests for the presence of adrenoleukodystrophy (ALD). The testing shall begin within 18 months following the occurrence of all of the following: (1) the development and validation of a reliable |
| methodology for screening newborns for ALD using dried blood spots and quality assurance testing methodology for such test or the approval of a test for ALD using dried blood spots by the federal Food and Drug Administration;
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(2) the availability of any necessary reagents for
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(3) the establishment and verification of relevant
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| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;
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(4) the availability of quality assurance testing and
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| comparative threshold values for ALD;
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(5) the acquisition and installment by the Department
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| of the equipment necessary to implement the initial pilot and statewide volume of screening tests for ALD;
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(6) the establishment of precise threshold values
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| ensuring defined disorder identification for ALD;
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(7) the authentication of pilot testing achieving
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| each milestone described in items (1) through (6) of this Section for ALD; and
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(8) the authentication of achieving the potential of
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| high throughput standards for statewide volume of ALD concomitant with each milestone described in items (1) through (6) of this Section.
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The Department is authorized to implement an additional fee for the screening no sooner than 6 months prior to beginning the testing in order to accumulate the resources for start-up and other costs associated with implementation of the screening and thereafter to support the costs associated with screening and follow-up programs for adrenoleukodystrophy.
(Source: P.A. 99-403, eff. 8-19-15.)
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(410 ILCS 240/3.5) Sec. 3.5. Metachromatic leukodystrophy. (a) The Department shall provide all newborns with screening tests for the presence of metachromatic leukodystrophy. The testing shall begin within 6 months after the occurrence of all of the following milestones: (1) Unless the federal Food and Drug Administration |
| approves a screening test for metachromatic leukodystrophy using dried blood spots, the development and validation of a reliable methodology for screening newborns for metachromatic leukodystrophy using dried blood spots and a methodology for conducting quality assurance testing of the screening test.
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(2) The availability of any necessary reagent for a
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| metachromatic leukodystrophy screening test.
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(3) The establishment and verification of relevant
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| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required.
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(4) The availability of quality assurance testing and
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| comparative threshold values for metachromatic leukodystrophy screening tests.
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(5) The acquisition and installation by the
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| Department of equipment necessary to implement metachromatic leukodystrophy screening tests.
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(6) The establishment of precise threshold values
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| ensuring defined disorder identification of metachromatic leukodystrophy.
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(7) The authentication of pilot testing indicating
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| that each milestone described in paragraphs (1) through (6) has been achieved.
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(8) The authentication of achieving the potential of
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| high throughput standards for statewide volume of each metachromatic leukodystrophy screening test concomitant with each milestone described in paragraphs (1) through (4).
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(b) To accumulate the resources for the costs, including start-up costs, associated with metachromatic leukodystrophy screening tests and any follow-up programs, the Department may require payment of an additional fee for administering a metachromatic leukodystrophy screening test under this Section. The Department may not require the payment of the additional fee prior to 6 months before the Department administers metachromatic leukodystrophy screening tests under this Section.
(Source: P.A. 103-368, eff. 1-1-24 .)
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(410 ILCS 240/3.6) Sec. 3.6. Duchenne muscular dystrophy. (a) Subject to appropriation, the Department shall provide all newborns with screening tests for the presence of Duchenne muscular dystrophy. The testing shall begin within 6 months after the occurrence of all of the following milestones: (1) Unless the federal Food and Drug Administration |
| approves a screening test for Duchenne muscular dystrophy using dried blood spots, the development and validation of a reliable methodology for screening newborns for Duchenne muscular dystrophy using dried blood spots and a methodology for conducting quality assurance testing of the screening test.
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(2) The availability of any necessary reagent for a
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| Duchenne muscular dystrophy screening test.
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(3) The establishment and verification of relevant
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| and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for Federal Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required.
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(4) The availability of quality assurance testing and
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| comparative threshold values for Duchenne muscular dystrophy screening tests.
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(5) The acquisition and installation by the
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| Department of equipment necessary to implement Duchenne muscular dystrophy screening tests.
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(6) The establishment of precise threshold values
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| ensuring defined disorder identification of Duchenne muscular dystrophy.
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(7) The authentication of pilot testing indicating
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| that each milestone described in paragraphs (1) through (6) has been achieved.
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(8) The authentication of achieving the potential of
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| high throughput standards for statewide volume of each Duchenne muscular dystrophy screening test concomitant with each milestone described in paragraphs (1) through (4).
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(b) To accumulate the resources for the costs, including start-up costs, associated with Duchenne muscular dystrophy screening tests and any follow-up programs, the Department may require payment of an additional fee for administering a Duchenne muscular dystrophy screening test under this Section. The Department may not require the payment of the additional fee prior to 6 months before the Department administers Duchenne muscular dystrophy screening tests under this Section.
(Source: P.A. 103-909, eff. 8-9-24.)
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(410 ILCS 240/3.35) Sec. 3.35. Spinal muscular atrophy. In accordance with the timetable specified in this Section, the Department shall provide all newborns with a screening test for spinal muscular atrophy using a method that determines the presence or absence of the intact or normal SMN1 gene, beginning on the earlier of the following: (1) July 1, 2020; or (2) within 6 months following the occurrence of all |
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(A) the establishment and verification of
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| relevant and appropriate performance specifications as defined under the federal Clinical Laboratory Improvement Amendments and regulations thereunder for federal Food and Drug Administration-cleared or in-house developed methods, performed under an institutional review board approved protocol, if required;
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(B) the availability of quality assurance
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| materials and comparative threshold values to determine the presence or absence of the intact or normal SMN1 gene;
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(C) the procurement and installation by the
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| Department of the equipment necessary to implement the initial pilot and statewide volume of screening tests for spinal muscular atrophy;
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(D) the establishment of precise threshold values
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| ensuring defined disorder identification for spinal muscular atrophy;
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(E) the development and validation of a reliable
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| methodology for screening newborns for spinal muscular atrophy using dried blood spots and quality assurance testing methodology for such test or the approval and procurement of a test for spinal muscular atrophy using dried blood spots by the federal Food and Drug Administration;
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(F) the authentication of pilot testing achieving
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| each milestone described in subparagraphs (A) through (E) of this paragraph for spinal muscular atrophy; and
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(G) the authentication of achieving the potential
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| of high throughput standards for statewide volume of spinal muscular atrophy concomitant with each milestone described in subparagraphs (A) through (E) of this paragraph.
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The Department is authorized to implement an additional fee for the screening upon the effective date of this amendatory Act of the 100th General Assembly in order to accumulate the resources for start-up and other costs associated with the implementation of the screening and thereafter to support the costs associated with screening. If the Department has not implemented statewide screening for spinal muscular atrophy under this Section within 36 months after the effective date of this amendatory Act of the 100th General Assembly, then the Department shall cease collecting any additional fees related to the screening. The Department may adopt emergency rules in accordance with Section 5-45 of the Illinois Administrative Procedure Act to implement this Section.
(Source: P.A. 100-864, eff. 8-14-18.)
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