Limb-Girdle Muscular Dystrophy (LGMD), Autosomal Recessive Common Variants with Interpretation
Whole Blood
Collection Medium:
Pink top tube 6 mL (K2-EDTA)
Adults - 3 mL whole blood in pink top tube (EDTA)
Children - 2 mL whole blood in pink 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. Do not freeze.
Testing Schedule:
0800-1700 Testing offered once per week excluding weekends and University holidays.
Turn Around Time:
2 weeks
Reference Range:
By report
Direct detection of mutations for alpha sarcoglycan R77C, beta sarcoglycan S114F and fukutin-related protein L276I.
Polymerase Chain Reaction - Amplification Refractory Mutation System (ARMS).
Sample Processing:
Do Not Centrifuge.
Label transport tube with two patient identifiers, date and time of collection.
Patient's age and sex is required on requisition for processing.
Relevant clinical information must be submitted with specimen in order to provide correct interpretation of test results.
Submit whole blood in original container.
Sample Storage:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, weekends, or holidays.
Transport Instructions:
Place specimen into Styrofoam container, seal container.
Place packing list into outside pocket of bag.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
Recommend early AM overnight shipping or equivalent if not on courier service.
Ship refrigerated.
CPT Code:
See Additional Information:
Limb-Girdle Muscular Dystrophy Information