Invitae Comprehensive Lysosomal Storage Disorders Panel
Use
The Invitae Comprehensive Lysosomal Storage Disorders (LSD) Panel analyzes genes associated with lysosomal storage diseases. This panel may be appropriate for individuals with signs and symptoms of any lysosomal storage disease or those suspected after an abnormal lysosomal enzyme study, biopsy, or newborn screen. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Individuals with low enzymatic activity for any lysosomal enzyme must undergo variant analysis for disease confirmation.
Special Instructions
Sponsored testing is available at no charge in addition to insurance and patient-pay billing options. The panel includes targeted variant testing for Gaucher disease and specific variants for the gene PPT1. Please refer to the online resources for more details about disorders tested and genetic testing for minors.
Limitations
The panel covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. Variants outside these regions are not analyzed. Sensitivity is >99% for SNVs, indels <15bp, and exon-level CNVs. Larger indels may have reduced sensitivity. Single-exon CNVs may not be analyzed due to sequence properties or data quality. Some structural rearrangements may not be detected. Non-coding regions, unless specified, are not covered.
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)