Lysosomal Storage Disorders Panel
Use
This test is intended for individuals who exhibit features suggestive of a lysosomal storage disorder or who have a clinical or suspected diagnosis of such conditions. It is particularly useful for patients who have inconclusive results from enzyme analysis or single gene sequencing and those whose phenotype suggests overlapping lysosomal storage disorders. The panel includes comprehensive sequencing of 146 genes associated with these disorders, providing valuable insights for diagnosis and management.
Special Instructions
Turnaround time for the test is 2-3 weeks, with a STAT option available that reduces the time to 7-16 days. This test is approved for New York and offers both exome and genome platform options with CNV analysis. It is important for healthcare providers ordering this test to include detailed clinical information and a completed test requisition form to ensure accurate interpretation and processing.
Limitations
While this test provides extensive coverage of lysosomal storage disorders, it is limited by the analytical constraints of Next-Generation Sequencing (NGS) and CNV analysis platforms. Variants in genes not covered by the panel may be missed, and certain types of genomic alterations like deep intronic variants, large in/dels, or certain CNVs may not be detected. The accuracy of detecting mosaicism is also limited, and clinical correlation with observed variants is essential.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Exome Platform: Blood, Buccal, Saliva, Tissue. Genome Platform: Blood.