Limb-Girdle Muscular Dystrophy (LGMD), Autosomal Recessive Common Variants with Interpretation
6004 BT GH
|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.
Room temperature for up to 24 hours, then refrigerate
the whole blood if it is necessary to be held overnight,
or weekends, or holidays.
0800-1700 Testing offered once per week
excluding weekends and University holidays.
Direct detection of mutations for alpha sarcoglycan R77C, beta
sarcoglycan S114F and fukutin-related protein L276I.
Polymerase Chain Reaction - Amplification Refractory Mutation System