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.