| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Newborn screening (NBS) recommendations in the U.S. are developed by the Secretary of Health and Human Services and known as the Recommended Uniform Screening Panel (RUSP). The RUSP is constantly in flux as emerging treatments and laboratory technologies enable additional recommendations following evidence-based review. Individual states are responsible for decisions regarding what disorders are included in their NBS program. While most states screen for the majority of recommended disorders, our NBS test menu allows hospitals to supplement NBS received by babies born in their facilities, which ensures standard of care.
To support public health NBS programs, we offer primary and second-tier biochemical tests, as well as molecular genetic testing. These services decrease initial false-positive rates, improve positive predictive values, and limit unnecessary family notifications. We also offer comprehensive follow-up testing for patients with abnormal NBS results through our inborn errors of metabolism test offerings.
Newborn screening Test menu
Our newborn screening evaluations supplement state screening programs to align with RUSP recommendations.
Key testing
Second-tier tests employ more sensitive methodologies that may not be suitable as a primary, high-throughput screening test. These tests are performed on the original NBS specimen when the primary screening assay yields abnormal results. This approach requires no additional patient contact and significantly increases the positive predictive value of the screening.
Decision support using CLIR
CLIR software creates and maintains an integrated database of clinical and laboratory data, which is used to produce on-demand, post-analytical tools. Our CLIR database consists of laboratory data from thousands of true positive cases submitted by participating collaborators worldwide. Rather than relying on a standard cutoff value, these tools merge the analysis of multiple analytes, each ranked according to clinical significance, into a single score that measures the likelihood of disease.
Biochemical testing
Molecular testing
Highlights
Thanks to advocacy work by a group of medical experts, including some from Mayo Clinic, the U.S. Department of Health and Human Services now recommends all states screen for infantile Krabbe disease to help save newborn lives.
A Mayo Clinic Laboratories newborn screening panel detects a rare disease and paves the way for life-sustaining treatment.
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme, alpha-L-iduronidase (IDUA), which is responsible for breaking down complex sugars called glycosaminoglycans (GAGs).
Mayo Clinic’s Biochemical Genetics Laboratory has announced an updated second-tier test to detect Krabbe disease (KD) that uses psychosine (PSY) as a disease marker. The new test method has significantly higher sensitivity to detect this devastating disease in infants and allows identification of KD patients with minimal psychosine elevations.