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.

 

****************************November 27, 2019**************************

NEWBORN SCREENING LAB RESULTS UPDATE: By close of business on November 27, 2019, the OPH Lab Newborn Screening Unit will be current with reporting Newborn Screening Results.  Please access lab results as normal.

 

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

The Genetic Diseases Program amended the Newborn Heel Stick Screening rule to add Severe Combined Immunodeficiency (SCID) to the panel of tests all newborns are screened for in Louisiana on December 10, 2018. Severe Combined Immunodeficiency (SCID) includes a group of rare but serious, and potentially fatal, inherited immune disorders in which T lymphocytes fail to develop and B lymphocytes are either absent or compromised. 

Newborn screening for T cell deficiencies is performed by measuring the quantities of DNA that are shed during T cell maturation.  This DNA is found in T cell receptor excision circles (TRECS).  The interpretation of T cell newborn screening is expressed as quantities of TRECS.

Click here to view the clinical guidelines and the list of pediatric immunologists in Louisiana who have expetise in treating infants with SCID.

Click here to view a copy of the Newborn Heel Stick Screening rule.

 


 

 

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)

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