Paroxysmal Paralytic Rhabdomyolysis via the LPIN1 Gene, Exons 18-19 Deletion
Use
This test is designed for individuals who have had prior genetic testing that was either negative or identified a single variant associated with autosomal recessive disease in the relevant gene. It is also suitable for family members of patients who have tested positive for specific deletions, duplications, or inversions in relevant genes. The test focuses on confirming the presence of the LPIN1 gene exons 18-19 deletion, which is associated with paroxysmal paralytic rhabdomyolysis, by targeting this specific genetic variation through PCR.
Special Instructions
Testing includes options for rapid (STAT) analysis and prenatal testing. STAT testing incurs a surcharge of 25% and is not applicable if results are delivered later than 16 days following sample submission. The test is conducted at PreventionGenetics, which adheres to CAP and CLIA regulations. The test is not FDA cleared or approved.
Limitations
The test specifically targets the exons 18-19 deletion in the LPIN1 gene and may not detect other mutations or variants in the LPIN1 gene or other genes involved in paroxysmal paralytic rhabdomyolysis. False negatives can occur if the deletion is present in regions not included by the test or due to technical limitations in detecting complex genetic rearrangements.
Methodology
PCR-based (Targeted)
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