The Louisiana Genetics Diseases Program
The Louisiana Department of Health’s Bureau of Family Health runs several programs that focus on genetic diseases and their impact on babies, children, and families. These programs are grouped together within the Louisiana Genetic Diseases Program. Together, they work to make sure that people know if they or their children have a genetic disease as early in life as possible and that people with genetic disorders get the treatment, information, and other services they need. Program activities include:
- Newborn heel stick screening and follow-up for all children born in Louisiana
- Genetics lab testing
- Genetic evaluation and counseling available at clinics across the state
- Specialized Sickle Cell Clinics available in each region of the state
- Referral of cases into specialized medical care
News and Updates
Use the links below to stay up to date on the latest news and updates from the Genetics Diseases Program.
- January 2025 Newborn Screening Cards and Storage Disorder Updates:
Shipment of Traditional (Red and Blue) Newborn Screening Cards
Effective immediately, the Office of Public Health (OPH) will resume shipment of regular red and blue cards for newborn screening. Specimen submitters can now use these cards. OPH issued temporary cards due to shipping delays caused by Hurricane Helene. This issue has been resolved. The last date to submit temporary cards is January 31, 2025. Please return all temporary cards to the address below, and OPH will replace the cards at no charge. If you are out of the temporary cards or a mix of red and blue cards, please follow the instructions on the form found here, and fax it to 504-568-8253.
Please return temporary cards to the following address:
LDH-Office of Public Health
Genetic Diseases Program
Attn: Margaret McGinnis
1450 Poydras St., Suite 2064
New Orleans, LA 70112
In-house testing for Lysosomal Storage Disorders
As of December 11, 2024, the Louisiana Department of Health, Office of Public Health (OPH) Laboratory began screening for Mucopolysaccharidosis type I (MPS I) and Glycogen storage disease type II (Pompe). Although OPH added these conditions to the Louisiana newborn screening panel in January 2022, samples were outsourced to partner laboratories while the newborn screening lab implemented new instrumentation and hired new staff. Follow-up procedures for abnormal results for these conditions will remain the same.
- January 2025: The Office of Public Health Laboratory will be partially closed in observance of Martin Luther King Day (01/20/2025). If an emergent situation arises, please contact the OPH laboratories 24/7 emergency number at 504-458-9537. For more details, please click this link for the Martin Luther King Day memorandum.
- January 2024: The Office of Public Health Laboratory will be partially closed in observance of Inauguration Day (01/08/2024) and Martin Luther King Day (01/15/2023). However, the Newborn Screening pick-ups will occur on Monday, January 8, 2024, and January 15, 2024. If an emergent situation arises, please contact the OPH laboratories 24/7 emergency number at 504-458-9537. For more details, please click these links for the Inauguration Day and the Martin Luther King Day memorandums.
- June 2022: Secure Remote Viewer (SRV) Web Browser Compatability
- January 2022: New Screenings on the Newborn Screening Panel are Live
- November 2021: New Screenings to be added to the Newborn Screening Panel Starting January 2022
- July 2021: Updates to the Secure Remote Viewer (SRV)
Genetic Diseases Boards and Commissions
The Bureau of Family Health currently supports 16 key boards, commissions, and councils that focus on family health in Louisiana. Each of these groups works to assess emerging health concerns, identify opportunities for improvement, and recommend strategies to make Louisiana a healthier place to live, learn, grow, and work. Three of these groups focus on genetic diseases in Louisiana:
- Louisiana Sickle Cell Commission
- Rare Disease Advisory Council
- Genetic Disease Program Advisory Committee
For more information, please visit the Family Health Boards and Commissions page.
Sickle Cell Disease Program
Sickle cell disease (SCD) is a group of inherited red blood cell disorders. In someone who has SCD, the hemoglobin in red blood cells is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious complications (health problems) such as infection, acute chest syndrome, and stroke.
To learn more about sickle cell disease in Louisiana, please visit the Sickle Cell Disease Program page.
Hemophilia Program
The Hemophilia program works to ensure that patients with hemophilia receive quality medical care that is not compromised by the high financial burden associated with this disease.
Patients in this program can receive services through the Office of Public Health Pharmacy Services Program.
Louisiana Comprehensive Hemophilia Care Center is a partner in this program.
The Louisiana Comprehensive Hemophilia Care Center
1460 Tulane Ave.
Campus Mail Box TB-31
New Orleans, LA 70112
Kathleen M. Kozar
504-988-3757
Krabbe Disease
Krabbe Disease (also known as Globoid Cell Leukodystrophy) is an inherited disorder that destroys the protective coating of nerve cells in the brain and throughout the nervous system. Krabbe Disease is not included on the newborn screening panel, but you can click here to learn more about the disease and find out who to call to request a screening.
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