Invitae Lysosomal Storage Disorders Newborn Screening Panel
Use
The panel analyzes genes associated with lysosomal storage disorders (LSDs) present in some US newborn screening (NBS) programs. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants provides accurate risk assessment and carrier status of at-risk relatives, allowing for accurate genetic counseling.
Special Instructions
This panel only includes targeted variant testing for Gaucher disease. Please refer to the Invitae Gaucher Common Variants Test for more information. Contact Invitae's client services for additional questions regarding the test or any specific gene analysis limitations.
Limitations
The assay does not cover sequence changes in the promoter regions, non-coding exons, and other non-coding regions unless explicitly guaranteed. Structural rearrangements or variants in complex sequences may not be detectable. Certain details like mosaicism or phasing may not be fully resolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)