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PA Bulletin, Doc. No. 17-117

NOTICES

Newborn Screening and Follow-Up Program; Addition of Lysosomal Storage Disorders to the Mandatory and Follow-up Screening Panels

[47 Pa.B. 361]
[Saturday, January 21, 2017]

 Under section 3(d) of the Newborn Child Testing Act (act) (35 P.S. § 623(d)), the Department of Health (Department), with the approval of the Newborn Screening and Follow-up Technical Advisory Board (Board), has the authority to establish by publication in the Pennsylvania Bulletin changes to the lists of screening tests for newborns under section 3(a)(1) and (2) of the act those diseases for which newborn children shall be screened and laboratory screening results reported.

 The act of October 15, 2014 (P.L. 2516, No. 148) amended the act to include six Lysosomal Storage Disorders (LSD) for testing: Pompe; Krabbe; Fabry; Niemann-Pick; Gaucher; and Hurler Syndrome (MPS 1). Effective February 5, 2016, Pompe was added to the mandatory panel, and the other five conditions (Krabbe, Fabry, Niemann-Pick, Gaucher and MPS 1) were added to the follow-up panel. The Department gives notice that, as recommended and approved by the Board at the meeting on November 30, 2016, that:

 • Effective February 1, 2017, MPS 1 will be added to the mandatory panel. Krabbe, Fabry, Niemann-Pick and Guacher will remain on the follow-up panel.

 • Effective April 1, 2017, X-ALD will be added to the mandatory panel.

 For additional information contact Kelly Holland, Director, Division of Newborn Screening and Genetics, (717) 783-8143. Speech and/or hearing impaired persons use V/TT (717) 783-6514 or the Pennsylvania AT&T Relay Service at (800) 654-5984 (TT).

KAREN M. MURPHY, PhD, RN, 
Secretary

[Pa.B. Doc. No. 17-117. Filed for public inspection January 20, 2017, 9:00 a.m.]


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