Lysosomal Storage Disorders Newborn Screening Panel Test code: 06171 • 10–21 days turnaround time 10 genrs
Lysosomal Storage Disorders Newborn Screening Panel
This panel analyzes genes associated with lysosomal storage disorders (LSDs) that are included in newborn screening programs in several states across the United States. The specific LSDs included in newborn screening vary by state and are determined by each state's individual newborn screening program.
When Testing May Be Appropriate
This panel may be appropriate for infants who have a suspected lysosomal storage disorder, particularly when an abnormal newborn screening result indicates a potential LSD.
Genetic testing may also be appropriate for infants who demonstrate reduced enzymatic activity involving a lysosomal enzyme. This is important because certain lysosomal enzymes are associated with known pseudodeficiency alleles.
Pseudodeficiency alleles can result in reduced or abnormal enzyme activity without causing clinical disease. Genetic testing can help distinguish true disease-causing variants from pseudodeficiency and help clarify the significance of an abnormal enzyme screening result.
Clinical Benefits of Genetic Testing
Genetic testing may help to:
- Confirm or clarify a suspected lysosomal storage disorder
- Determine whether an abnormal newborn screening result is associated with a disease-causing genetic variant
- Distinguish disease-causing variants from pseudodeficiency alleles
- Guide appropriate treatment and medical management
- Support ongoing monitoring and surveillance
- Provide more accurate assessment of inherited disease risk
- Identify carrier status in at-risk family members
- Support genetic counseling and family planning
- Identify relatives who may benefit from additional genetic evaluation
Identification of disease-causing variants can provide important information for determining an infant's diagnosis and helping healthcare professionals develop an appropriate treatment and management plan.
Gaucher Disease Testing
Important Testing Information:
This panel includes targeted variant testing for Gaucher disease rather than comprehensive analysis of all possible variants associated with the condition. If additional or more comprehensive Gaucher disease testing is clinically indicated, a dedicated Gaucher disease genetic test may be appropriate.
Genetic results should be interpreted in conjunction with newborn screening results, enzyme activity testing, clinical findings, family history, and other laboratory or diagnostic evaluations.