Lysosomal Storage Disease Gene Panel, Varies
Use
The Lysosomal Storage Disease Gene Panel is designed to follow up on abnormal biochemical results and confirm suspected cases of lysosomal storage disease (LSD). By establishing a molecular diagnosis, the test helps identify variants within genes associated with LSD, allowing for predictive testing of at-risk family members. This aids in the management and counseling of patients with LSD.
Special Instructions
The test is useful for patients exhibiting signs of LSD following abnormal biochemical screenings. It includes testing for a comprehensive list of genes linked to various LSDs, ensuring a thorough molecular investigation. Additional tests such as fibroblast or amniotic fluid culture may be reflexively added for prenatal specimens, with associated charges.
Limitations
The test is limited by the scope of next-generation sequencing, which primarily detects single nucleotide and copy number variants. Sequence Capture and Next-Generation Sequencing, along with PCR and Sanger Sequencing, are employed; however, limitations exist in the detection of very low frequency variants and some structural variations. Other mutational types may not be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
If skin biopsy is received, additional fibroblast culture will be added. For prenatal specimens like amniotic fluid or chorionic villi, culture will be performed.