Limb-Girdle Muscular Dystrophy (LGMD), Autosomal Recessive Common Variants with Interpretation
Specimen(s):
Whole Blood
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. 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
Comments:
Direct detection of mutations for alpha sarcoglycan R77C, beta sarcoglycan S114F and fukutin-related protein L276I.
Methodology:
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.
Lavender tube is sent as whole blood, no processing necessary.
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 requisition into outside pocket of bag.
Recommend early AM overnight shipping or equivalent if not on courier service.
Ship at ambient temperature.
Place specimen into Styrofoam container, seal container.
DO NOT FREEZE, protect specimen by wrapping in bubble-wrap or toweling.
CPT Code:
81479
 
See Additional Information:
Limb-Girdle Muscular Dystrophy Information