Virginia Regulatory Town Hall
Virginia Department of Health
State Board of Health
Regulations Governing Virginia Newborn Screening Services [12 VAC 5 ‑ 71]
Amend Regulations to add SMA and X-ALD to the Virginia Newborn Screening System
Action 5259
General Information
Action Summary The proposed regulatory action would amend the existing newborn screening regulation to add spinal muscular atrophy (SMA) and X-linked adrenoleukodystrophy (X-ALD) to the newborn screening panel. Blood spot newborn screening services are provided by the Department of General Services’ Division of Consolidated Laboratory Services (DCLS) in partnership with the Virginia Department of Health (VDH). SMA is a genetic disorder that is estimated to occur in approximately 9.1 out of every 100,000 live births. X-ALD is a genetic disorder that is estimated to occur in approximately 6 out of every 100,000 live births. Treatment for both X-ALD and SMA is available if detected early. Screening is necessary, as these disorders cannot be detected at birth through physical examinations. The additions of SMA and X-ALD to the newborn screening panel have been recommended by the Virginia Genetics Advisory Committee. On the national level, these disorders have been added to the core panel of 35 genetic disorders included in the Recommended Uniform Screening Panel (RUSP) of the US Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children.
Chapters Affected Only affects this chapter.
Executive Branch Review This action will go through the normal Executive Branch Review process.
RIS Project Yes  [005996]
New Periodic Review This action will not be used to conduct a new periodic review.
Stages associated with this regulatory action.
Stage ID Stage Type Status
8581 NOIRA Stage complete. Comment period ended 06/27/2019.
8965 Proposed Stage complete. Comment period ended 07/09/2021.
9513 Final Stage complete. This regulation became effective on 03/16/2022.
Contact Information
Name / Title: Robin Buskey  / Policy Analyst - Office of Family Health Services
Address: Virginia Department of Health
109 Governor Street
Richmond, VA 23219
Email Address:
Phone: (804)864-7253    FAX: (804)864-7022    TDD: ()-