Limb Girdle Muscular Dystrophy (Autosomal Recessive Panel and FKRP Sequencing)
| Order Form: | A-1a Molecular Pathology/Diagnostics or Epic Req |
Molecular Pathology
6004 BT GH
384-9568
6004 BT GH
384-9568
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.
Analytic Time:
21 days
Comments:
Direct detection of mutations for alpha sarcoglycan R77C, beta
sarcoglycan S114F and fukutin-related protein L276I will be performed
initially followed by sequencing of FKRP if requested.
See also:
FKRP Sequencing, Whole Blood
Limb Girdle Muscular Dystrophy, Autosomal Recessive (LGPCR) - Mutation Analysis, Whole Blood
FKRP Sequencing, Whole Blood
Limb Girdle Muscular Dystrophy, Autosomal Recessive (LGPCR) - Mutation Analysis, Whole Blood