Limb Girdle Muscular Dystrophy, Autosomal Recessive Common Mutation Panel with FKRP sequencing
Molecular Pathology
6004 BT GH
Collection Medium:
Lavender top tube 3 mL (EDTA)
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.
Turn Around Time:
21 days
Direct detection of mutations for alpha sarcoglycan R77C, beta sarcoglycan S114F and fukutin-related protein L276I is performed initially followed by sequencing of FKRP.
CPT Code:
81479, 81404