Limb Girdle Muscular Dystrophy (Autosomal Recessive Panel and FKRP Sequencing)
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.
Analytic Time:
21 days
Comments:
Direct detection of mutations for alpha sarcoglycan R77C, beta sarcoglycan S114F and fukutin-related protein L276I will be performed initially followed by sequencing of FKRP if requested.
Instructions:
Contact University of Iowa Diagnostic Laboratories
1-866-844-2522 (toll free)
319-384-7213 (Fax)