Limb-Girdle Muscular Dystrophy (LGMD), Autosomal Recessive Common Variants with Interpretation
Label Mnemonic: LGPCR
Epic Lab Code: LAB2395
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
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.
Delivery Instructions:
Room temperature for up to 24 hours, then refrigerate the whole blood if it is necessary to be held overnight, or weekends, or holidays.
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).
CPT Code:
81479