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PA Bulletin, Doc. No. 23-410

NOTICES

DEPARTMENT OF HEALTH

Addition of Mucopolysaccharidosis Type II to the Supplemental Conditions Mandated for Screening in this Commonwealth

[53 Pa.B. 1772]
[Saturday, March 25, 2023]

 The Department of Health's (Department) Division of Newborn Screening and Genetics, with support of the Newborn Screening and Follow-up Technical Advisory Board (Board) and its lysosomal storage disorder subcommittee, is adding Mucopolysaccharidosis Type II Disorder (MPS II) screening effective July 1, 2023, to the supplemental conditions mandated for screening and follow-up by Commonwealth submitters and follow-up by the Commonwealth newborn screening program.

 The United States Secretary of Health and Human Services approved the Advisory Committee on Heritable Disorders in Newborns and Children recommendation to add MPS II to the Recommended Uniform Screening Panel on August 2, 2022.

 MPS II, also referred to as Hunter Syndrome, is an X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate 2- sulfatase, which is needed to break down complex sugars, glycosaminoglycans within the lysosomes. The severe form is characterized by progressive intellectual disability, the development of characteristic facial features, progressive joint stiffness that can limit mobility and progressive involvement of the liver, spleen and heart.

 Under section 3 of the Newborn Child Testing Act (35 P.S. § 623(d)), the Department, with the approval of the Board, shall establish, by transmitting notice to the Legislative Reference Bureau (LRB) for periodic publication in the Pennsylvania Bulletin, changes to the lists under subsection (a)(1) and (2) of those diseases for which newborn children shall be screened and laboratory screening results reported. Prior to making any change, the Department and Board shall jointly transmit a notice to the LRB for publication in the Pennsylvania Bulletin that establishes a public comment period of at least 30 days. A notice was published at 53 Pa.B. 907 (February 11, 2023). The Department did not receive any comments.

 The addition of MPS II to the Commonwealth's supplemental mandated screening panel will increase the cost of the supplemental mandated panel by an estimated $6.52 per newborn and will be invoiced to submitters by PerkinElmer Genetics.

 For additional information, contact Jordan Shover, Public Health Program Manager, Division of Newborn Screening and Genetics, at (717) 783-8143. Speech and/or hearing-impaired persons use V/TT (717) 783-6514 or the Pennsylvania Hamilton Relay Service at (800) 654-5984 (TT).

DR. DEBRA L. BOGEN, 
Acting Secretary

[Pa.B. Doc. No. 23-410. Filed for public inspection March 24, 2023, 9:00 a.m.]


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