Genetic Diseases Program 

The Louisiana Genetic Diseases Program was established in 1981 through a federal grant from the Health Resources and Services Administration (HRSA). The purpose of the program continues to be the operation of a comprehensive newborn heel stick screening program meeting national standards as well as to ensure access to genetic evaluation and counseling to residents in all areas of Louisiana.

 

Secure Remote Viewer (SRV) Electronic Lab Results Registration - September 27, 2018

 

Effective immediately, the OPH state laboratory will no longer send out physical copies of Newborn Screening lab results to providers. Medical providers will be able to view the Newborn Screening lab results through our Secured Remote Viewer Web Based System (SRV). Please fill out the attached registration form (Registration form) and fax it to 504-568-8253.  Instruction on accessing SRV can be found here (Instructions).

 

Severe Combined Immunodeficiency- Proposed Rule

Notice of Intent  The Genetic Diseases Program is proposing to amend its existing rule to add an additional test to the newborn screening panel to test for Severe Combined Immunodeficiency.  In accordance with the Administrative Procedure Act, notice is here by provided that a copy of the proposed rule has been delivered on July 10, 2018 to the legislative oversight committees which oversee LDH rulemaking.  

The major amendment to the existing Newborn Heel Stick Screening rule proposes to add Severe Combined Immunodeficiency (SCID) to the panel of tests all newborns are screened for in Louisiana. Secondarily, the proposed rule updates procedures to reflect modern laboratory methodologies and to update current addresses, phone numbers and fax numbers. Finally, a proposed amendment to the lab fee rule will make the Newborn Screening Panel lab test fee consistent with the fee currently collected by the Newborn Heel Stick Screening program.

The current rule can be found on the Division of Administration Office of the State Register website under LAC 48, Part V in Book 2 of 2.

Click here to visit the DOA OSR website.

Click here to view a copy of the proposed Newborn Heel Stick Screening rule which is coded with any new rule language that is to be added to the existing rule underscored and any language that is to be deleted from the existing agency rule in struck-through type.

The expected publication date of the Notice of Intent (NOI) in the Louisiana Register is July 20, 2018.

The anticipated effective date of the proposed rule is October 20, 2018.

 2nd Oversight Report  Click here to view a copy of the 2nd Legislative Oversight Committee Report for the proposed Newborn Heel Stick Screening and Lab Services rule. This oversight report was delivered to the relevant oversight committees on September 5, 2018.

 

 


Also known as Globoid Cell Leukodystrohpy, Krabbe Disease is an inherited disorder that destroys the protective coating of nerve cells in the brain and throughout the nervous system. Click here to download more information about Krabbe disease, including information on screening. 

New Cutoff Values for Newborn Screening

The Office of Public Health Laboratory had completed a review for all of the cut-off values used for newborn screening testing based on 2015 data. The evaluation was done first by comparing the mean values observed (measured) values for each analyte (compound detected) during 2015 to the 2014 mean values for the same analyte. This is a way to look for shifts in the average reference values for the Louisiana newborn population as a whole.  Please click here for evaluation method and detail updates.

NEW links to videos regarding Newborn Screening specimen collection for staff training:

https://www.youtube.com/watch?v=pPnLmYUVtvM&feature=youtu.be

External Link to Youtube Video - Every Hour Counts: Timely collection & Transport of Newborn Screening Specimens (18:21 minutes)

External Link to Youtube Video - CLSI (Clinical and Laboratory Standards Institute) Newborn Screening Informational Video (1:48 minutes)

Helpful Information

Program Components

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